nsv3895625
- 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:297,831
- Description:GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)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: 901 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 901 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895625 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 23,789,282 | 24,087,112 |
| nsv3895625 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 24,012,152 | 24,309,982 |
| nsv3895625 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 23,865,656 | 24,163,486 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135165 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137161.4, VCV000148077.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135165 | Submitted genomic | NC_000002.12:g.(?_ 23789282)_(2408711 2_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 23,789,282 | 24,087,112 |
| nssv15135165 | Submitted genomic | NC_000002.11:g.(?_ 24012152)_(2430998 2_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 24,012,152 | 24,309,982 |
| nssv15135165 | Submitted genomic | NC_000002.10:g.(?_ 23865656)_(2416348 6_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 23,865,656 | 24,163,486 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135165 | GRCh37: NC_000002.11:g.(?_24012152)_(24309982_?)del, GRCh38: NC_000002.12:g.(?_23789282)_(24087112_?)del, NCBI36: NC_000002.10:g.(?_23865656)_(24163486_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137161.4, VCV000148077.2 | 1 |