nsv3911723
- 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:2,295,739
- Description:GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)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: 6460 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 6453 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1538 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911723 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 9,394,874 | 11,690,612 |
| nsv3911723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 9,436,558 | 11,732,086 |
| nsv3911723 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 9,411,558 | 11,707,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148124 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137433.7, VCV000148359.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148124 | Submitted genomic | NC_000003.12:g.(?_ 9394874)_(11690612 _?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 9,394,874 | 11,690,612 |
| nssv15148124 | Submitted genomic | NC_000003.11:g.(?_ 9436558)_(11732086 _?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 9,436,558 | 11,732,086 |
| nssv15148124 | Submitted genomic | NC_000003.10:g.(?_ 9411558)_(11707086 _?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 9,411,558 | 11,707,086 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148124 | GRCh37: NC_000003.11:g.(?_9436558)_(11732086_?)del, GRCh38: NC_000003.12:g.(?_9394874)_(11690612_?)del, NCBI36: NC_000003.10:g.(?_9411558)_(11707086_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137433.7, VCV000148359.2 | 1 |