nsv3902899
- 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:15,923,878
- Description:GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 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: 34859 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 34878 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 8706 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3902899 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 94,678,532 | 110,602,409 |
| nsv3902899 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 95,344,257 | 111,359,986 |
| nsv3902899 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 94,707,984 | 111,076,455 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148156 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141075.5, VCV000152537.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148156 | Submitted genomic | NC_000002.12:g.(?_ 94678532)_(1106024 09_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 94,678,532 | 110,602,409 |
| nssv15148156 | Submitted genomic | NC_000002.11:g.(?_ 95344257)_(1113599 86_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,344,257 | 111,359,986 |
| nssv15148156 | Submitted genomic | NC_000002.10:g.(?_ 94707984)_(1110764 55_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 94,707,984 | 111,076,455 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148156 | GRCh37: NC_000002.11:g.(?_95344257)_(111359986_?)dup, GRCh38: NC_000002.12:g.(?_94678532)_(110602409_?)dup, NCBI36: NC_000002.10:g.(?_94707984)_(111076455_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141075.5, VCV000152537.1 | 3 |