nsv4381067
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:83,657
- 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 55 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4381067 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 21,217,943 | 21,301,599 |
nsv4381067 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 21,259,435 | 21,343,091 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15611919 | copy number gain | 1-0661-003 | SNP array | Genotyping | 18 |
nssv15643926 | copy number gain | 16-1007-002 | SNP array | Genotyping | 21 |
nssv15644778 | copy number gain | 16-1007-004 | SNP array | Genotyping | 23 |
nssv15649026 | copy number gain | 2-1169-002 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15611919 | Remapped | Perfect | NC_000003.12:g.(?_ 21217943)_(2130159 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 21,217,943 | 21,301,599 |
nssv15643926 | Remapped | Perfect | NC_000003.12:g.(?_ 21217943)_(2130159 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 21,217,943 | 21,301,599 |
nssv15644778 | Remapped | Perfect | NC_000003.12:g.(?_ 21217943)_(2130159 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 21,217,943 | 21,301,599 |
nssv15649026 | Remapped | Perfect | NC_000003.12:g.(?_ 21217943)_(2130159 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 21,217,943 | 21,301,599 |
nssv15611919 | Submitted genomic | NC_000003.11:g.(?_ 21259435)_(2134309 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 21,259,435 | 21,343,091 | ||
nssv15643926 | Submitted genomic | NC_000003.11:g.(?_ 21259435)_(2134309 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 21,259,435 | 21,343,091 | ||
nssv15644778 | Submitted genomic | NC_000003.11:g.(?_ 21259435)_(2134309 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 21,259,435 | 21,343,091 | ||
nssv15649026 | Submitted genomic | NC_000003.11:g.(?_ 21259435)_(2134309 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 21,259,435 | 21,343,091 |