nsv4386776
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:36
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,828
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 353 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 60 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4386776 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nsv4386776 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15611710 | copy number loss | 1-0112-001 | SNP array | Genotyping | 16 |
nssv15612938 | copy number loss | 1-0692-003 | SNP array | Genotyping | 17 |
nssv15613089 | copy number loss | 1-0112-004 | SNP array | Genotyping | 26 |
nssv15621928 | copy number loss | 1-0973-003 | SNP array | Genotyping | 17 |
nssv15630176 | copy number loss | 1-0551-004 | SNP array | Genotyping | 23 |
nssv15630184 | copy number loss | 1-0555-001 | SNP array | Genotyping | 14 |
nssv15637822 | copy number loss | 14-0179-001 | SNP array | Genotyping | 22 |
nssv15646056 | copy number loss | 16-1011-005 | SNP array | Genotyping | 16 |
nssv15647270 | copy number loss | 2-1086-002 | SNP array | Genotyping | 18 |
nssv15647287 | copy number loss | 2-1086-003 | SNP array | Genotyping | 22 |
nssv15647699 | copy number loss | 2-0318-003 | SNP array | Genotyping | 22 |
nssv15649188 | copy number loss | 2-1259-003 | SNP array | Genotyping | 19 |
nssv15651840 | copy number loss | 2-1577-002 | SNP array | Genotyping | 23 |
nssv15652971 | copy number loss | 2-1577-003 | SNP array | Genotyping | 21 |
nssv15653790 | copy number loss | 2-1567-001 | SNP array | Genotyping | 25 |
nssv15657763 | copy number loss | 4-0048-001 | SNP array | Genotyping | 23 |
nssv15661131 | copy number loss | 4-0079-003 | SNP array | Genotyping | 18 |
nssv15661322 | copy number loss | 5-0067-003 | SNP array | Genotyping | 23 |
nssv15665251 | copy number loss | LHSC-GA-15-613 | SNP array | Genotyping | 19 |
nssv15666047 | copy number loss | 5-0034-003 | SNP array | Genotyping | 20 |
nssv15668774 | copy number loss | 7-0227-003 | SNP array | Genotyping | 17 |
nssv15673172 | copy number loss | 9-0029-001 | SNP array | Genotyping | 18 |
nssv15673916 | copy number loss | 9-0025-002 | SNP array | Genotyping | 22 |
nssv15673943 | copy number loss | 9-0025-003 | SNP array | Genotyping | 24 |
nssv15679096 | copy number loss | 240256S | SNP array | Genotyping | 19 |
nssv15683825 | copy number loss | OCD13-S_896243 | SNP array | Genotyping | 20 |
nssv15685346 | copy number loss | OCD118-B_1711 | SNP array | Genotyping | 16 |
nssv15685385 | copy number loss | OCD118-S_1713 | SNP array | Genotyping | 18 |
nssv15691121 | copy number loss | OCD26-896511 | SNP array | Genotyping | 28 |
nssv15691586 | copy number loss | OCD55-0625-9391-3 | SNP array | Genotyping | 20 |
nssv15692335 | copy number loss | OCD55-0625-9391-2 | SNP array | Genotyping | 22 |
nssv15692532 | copy number loss | OCD65-RS-1249 | SNP array | Genotyping | 21 |
nssv15694168 | copy number loss | OCD81-896772 | SNP array | Genotyping | 18 |
nssv15695702 | copy number loss | OCD99-1550 | SNP array | Genotyping | 31 |
nssv15698152 | copy number loss | 125563 | SNP array | Genotyping | 21 |
nssv15700951 | copy number loss | 144445 | SNP array | Genotyping | 25 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15611710 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15612938 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15613089 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15621928 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15630176 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15630184 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15637822 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15646056 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15647270 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15647287 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15647699 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15649188 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15651840 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15652971 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15653790 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15657763 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15661131 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15661322 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15665251 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15666047 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15668774 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15673172 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15673916 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15673943 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15679096 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15683825 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15685346 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15685385 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15691121 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15691586 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15692335 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15692532 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15694168 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15695702 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15698152 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15700951 | Remapped | Perfect | NC_000002.12:g.(?_ 78474565)_(7850039 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 78,474,565 | 78,500,392 |
nssv15611710 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15612938 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15613089 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15621928 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15630176 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15630184 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15637822 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15646056 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15647270 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15647287 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15647699 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15649188 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15651840 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15652971 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15653790 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15657763 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15661131 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15661322 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15665251 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15666047 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15668774 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15673172 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15673916 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15673943 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15679096 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15683825 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15685346 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15685385 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15691121 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15691586 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15692335 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15692532 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15694168 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15695702 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15698152 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 | ||
nssv15700951 | Submitted genomic | NC_000002.11:g.(?_ 78701691)_(7872751 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 78,701,691 | 78,727,518 |