nsv3907002
- 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:4,030,779
- Description:GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)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: 9421 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 9421 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2447 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907002 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 194,515,159 | 198,545,937 |
| nsv3907002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 195,379,883 | 199,410,661 |
| nsv3907002 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 195,088,128 | 199,118,906 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132676 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051092.5, VCV000057395.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132676 | Submitted genomic | NC_000002.12:g.(?_ 194515159)_(198545 937_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 194,515,159 | 198,545,937 |
| nssv15132676 | Submitted genomic | NC_000002.11:g.(?_ 195379883)_(199410 661_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 195,379,883 | 199,410,661 |
| nssv15132676 | Submitted genomic | NC_000002.10:g.(?_ 195088128)_(199118 906_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 195,088,128 | 199,118,906 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132676 | GRCh37: NC_000002.11:g.(?_195379883)_(199410661_?)del, GRCh38: NC_000002.12:g.(?_194515159)_(198545937_?)del, NCBI36: NC_000002.10:g.(?_195088128)_(199118906_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051092.5, VCV000057395.1 | 1 |