nsv3874583
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,213,429
- Description:GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)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: 6369 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 6064 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 1835 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3874583 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 146,349,909 | 149,563,337 |
nsv3874583 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,415,190 | 148,809,863 | ||
nsv3874583 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,126,547 | 147,076,487 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15137741 | copy number gain | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000140695.5, VCV000152024.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15137741 | Remapped | Pass | NC_000001.11:g.(?_ 146349909)_(149563 337_?)dup | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 146,349,909 | 149,563,337 |
nssv15137741 | Submitted genomic | NC_000001.10:g.(?_ 145415190)_(148809 863_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,415,190 | 148,809,863 | ||
nssv15137741 | Submitted genomic | NC_000001.9:g.(?_1 44126547)_(1470764 87_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,126,547 | 147,076,487 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15137741 | GRCh37: NC_000001.10:g.(?_145415190)_(148809863_?)dup, NCBI36: NC_000001.9:g.(?_144126547)_(147076487_?)dup | copy number gain | not provided | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000140695.5, VCV000152024.2 | 3 |