nsv3918220
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,385,818
- Description:GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8592 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 8592 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2300 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918220 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 10,601,499 | 13,987,316 |
| nsv3918220 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 10,601,732 | 13,987,547 |
| nsv3918220 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 10,709,718 | 14,095,526 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138391 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142410.5, VCV000154343.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138391 | Submitted genomic | NC_000006.12:g.(?_ 10601499)_(1398731 6_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 10,601,499 | 13,987,316 |
| nssv15138391 | Submitted genomic | NC_000006.11:g.(?_ 10601732)_(1398754 7_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 10,601,732 | 13,987,547 |
| nssv15138391 | Submitted genomic | NC_000006.10:g.(?_ 10709718)_(1409552 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 10,709,718 | 14,095,526 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138391 | GRCh37: NC_000006.11:g.(?_10601732)_(13987547_?)del, GRCh38: NC_000006.12:g.(?_10601499)_(13987316_?)del, NCBI36: NC_000006.10:g.(?_10709718)_(14095526_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142410.5, VCV000154343.2 | 1 |