nsv3912925
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:80,103,187
- Description:GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 AND See cases
- ClinVar: RCV000051048.7
- ClinVar: RCV000148072.3
- ClinVar: VCV000033085.2
- ClinVar: VCV000160810.1
- dbVar: nssv578760
- dbVar: nssv578763
- dbVar: nssv582222
- dbVar: nssv582806
- dbVar: nssv583188
- dbVar: nssv584342
- dbVar: nssv706203
- dbVar: nssv706292
- dbVar: nsv1067616
- dbVar: nsv529608
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 213659 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 213420 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 54183 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912925 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 148,963 | 80,252,149 |
| nsv3912925 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 148,963 | 78,010,032 |
| nsv3912925 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 138,963 | 76,111,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146335 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051048.7, VCV000033085.2 | 3 |
| nssv15148275 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148072.3, VCV000160810.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146335 | Submitted genomic | NC_000018.10:g.(?_ 148963)_(80252149_ ?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 148,963 | 80,252,149 |
| nssv15148275 | Submitted genomic | NC_000018.10:g.(?_ 148963)_(80252149_ ?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 148,963 | 80,252,149 |
| nssv15146335 | Submitted genomic | NC_000018.9:g.(?_1 48963)_(78010032_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 148,963 | 78,010,032 |
| nssv15148275 | Submitted genomic | NC_000018.9:g.(?_1 48963)_(78010032_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 148,963 | 78,010,032 |
| nssv15146335 | Submitted genomic | NC_000018.8:g.(?_1 38963)_(76111023_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 138,963 | 76,111,023 |
| nssv15148275 | Submitted genomic | NC_000018.8:g.(?_1 38963)_(76111023_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 138,963 | 76,111,023 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146335 | GRCh37: NC_000018.9:g.(?_148963)_(78010032_?)dup, GRCh38: NC_000018.10:g.(?_148963)_(80252149_?)dup, NCBI36: NC_000018.8:g.(?_138963)_(76111023_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000051048.7, VCV000033085.2 | 3 |
| nssv15148275 | GRCh37: NC_000018.9:g.(?_148963)_(78010032_?)dup, GRCh38: NC_000018.10:g.(?_148963)_(80252149_?)dup, NCBI36: NC_000018.8:g.(?_138963)_(76111023_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000148072.3, VCV000160810.1 | 3 |