nsv4385879
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,906
- 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: 360 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 77 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4385879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 59,047,641 | 59,087,546 |
nsv4385879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 58,815,114 | 58,855,019 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15616711 | copy number gain | 1-0877-003 | SNP array | Genotyping | 31 |
nssv15656290 | copy number gain | 4-0001-004 | SNP array | Genotyping | 19 |
nssv15660750 | copy number gain | 5-0065-001 | SNP array | Genotyping | 20 |
nssv15669387 | copy number loss | 7-0240-002 | SNP array | Genotyping | 18 |
nssv15675603 | copy number gain | 171442 | SNP array | Genotyping | 29 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15616711 | Remapped | Perfect | NC_000011.10:g.(?_ 59047641)_(5908754 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 59,047,641 | 59,087,546 |
nssv15656290 | Remapped | Perfect | NC_000011.10:g.(?_ 59047641)_(5908754 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 59,047,641 | 59,087,546 |
nssv15660750 | Remapped | Perfect | NC_000011.10:g.(?_ 59047641)_(5908754 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 59,047,641 | 59,087,546 |
nssv15669387 | Remapped | Perfect | NC_000011.10:g.(?_ 59047641)_(5908754 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 59,047,641 | 59,087,546 |
nssv15675603 | Remapped | Perfect | NC_000011.10:g.(?_ 59047641)_(5908754 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 59,047,641 | 59,087,546 |
nssv15616711 | Submitted genomic | NC_000011.9:g.(?_5 8815114)_(58855019 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 58,815,114 | 58,855,019 | ||
nssv15656290 | Submitted genomic | NC_000011.9:g.(?_5 8815114)_(58855019 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 58,815,114 | 58,855,019 | ||
nssv15660750 | Submitted genomic | NC_000011.9:g.(?_5 8815114)_(58855019 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 58,815,114 | 58,855,019 | ||
nssv15669387 | Submitted genomic | NC_000011.9:g.(?_5 8815114)_(58855019 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 58,815,114 | 58,855,019 | ||
nssv15675603 | Submitted genomic | NC_000011.9:g.(?_5 8815114)_(58855019 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 58,815,114 | 58,855,019 |