nsv3914847
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,076,613
- Description:NCBI36/hg18 1q42.12-44(chr1:223134347-247179289)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: 72507 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 72419 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 19444 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3914847 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 224,862,285 | 224,862,285 | 248,938,897 | 248,938,897 |
nsv3914847 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 225,049,987 | 225,049,987 | 249,233,096 | 249,233,096 |
nsv3914847 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 223,116,610 | 223,134,347 | 247,179,289 | 247,199,719 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15126459 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000451057.2, VCV000401983.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15126459 | Remapped | Good | NC_000001.11:g.(22 4862285_224862285) _(248938897_248938 897)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,862,285 | 224,862,285 | 248,938,897 | 248,938,897 |
nssv15126459 | Remapped | Good | NC_000001.10:g.(22 5049987_225049987) _(249233096_249233 096)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 225,049,987 | 225,049,987 | 249,233,096 | 249,233,096 |
nssv15126459 | Submitted genomic | NC_000001.9:g.(223 116610_223134347)_ (247179289_2471997 19)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 223,116,610 | 223,134,347 | 247,179,289 | 247,199,719 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15126459 | NCBI36: NC_000001.9:g.(223116610_223134347)_(247179289_247199719)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000451057.2, VCV000401983.2 | 3 |