nsv4385336
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:144,352
- 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: 1795 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1193 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1795 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nsv4385336 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nsv4385336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15638441 | copy number gain | 14-0135-004 | SNP array | Genotyping | 33 |
| nssv15643443 | copy number gain | 16-1012-003 | SNP array | Genotyping | 26 |
| nssv15644270 | copy number gain | 16-1005-001 | SNP array | Genotyping | 18 |
| nssv15653767 | copy number gain | 2-1630-003 | SNP array | Genotyping | 21 |
| nssv15655657 | copy number gain | 2-1702-003 | SNP array | Genotyping | 25 |
| nssv15663608 | copy number gain | 5-1005-003 | SNP array | Genotyping | 21 |
| nssv15664105 | copy number gain | 228029 | SNP array | Genotyping | 27 |
| nssv15667955 | copy number gain | 7-0161-003 | SNP array | Genotyping | 27 |
| nssv15668094 | copy number gain | 7-0196-004 | SNP array | Genotyping | 24 |
| nssv15670617 | copy number gain | 7-0199-003 | SNP array | Genotyping | 20 |
| nssv15674287 | copy number gain | 9-0033-002 | SNP array | Genotyping | 22 |
| nssv15697049 | copy number gain | 144453 | SNP array | Genotyping | 34 |
| nssv15697982 | copy number gain | 216810 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15638441 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15643443 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15644270 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15653767 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15655657 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15663608 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15664105 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15667955 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15668094 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15670617 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15674287 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15697049 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15697982 | Remapped | Good | NT_187587.1:g.(?_6 31)_(144982_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 631 | 144,982 |
| nssv15638441 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15643443 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15644270 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15653767 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15655657 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15663608 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15664105 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15667955 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15668094 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15670617 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15674287 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15697049 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15697982 | Remapped | Perfect | NC_000012.12:g.(?_ 31112110)_(3125418 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,112,110 | 31,254,188 |
| nssv15638441 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15643443 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15644270 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15653767 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15655657 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15663608 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15664105 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15667955 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15668094 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15670617 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15674287 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15697049 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 | ||
| nssv15697982 | Submitted genomic | NC_000012.11:g.(?_ 31265044)_(3140712 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,265,044 | 31,407,122 |