nsv3914009
- 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:23,505,753
- Description:GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)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: 55192 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 55185 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 13287 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 |
|---|---|---|---|---|---|---|---|
| nsv3914009 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 129,847,794 | 153,353,546 |
| nsv3914009 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 129,183,487 | 152,733,106 |
| nsv3914009 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 129,211,386 | 152,713,299 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147415 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138808.5, VCV000149858.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147415 | Submitted genomic | NC_000005.10:g.(?_ 129847794)_(153353 546_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 129,847,794 | 153,353,546 |
| nssv15147415 | Submitted genomic | NC_000005.9:g.(?_1 29183487)_(1527331 06_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 129,183,487 | 152,733,106 |
| nssv15147415 | Submitted genomic | NC_000005.8:g.(?_1 29211386)_(1527132 99_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 129,211,386 | 152,713,299 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147415 | GRCh37: NC_000005.9:g.(?_129183487)_(152733106_?)dup, GRCh38: NC_000005.10:g.(?_129847794)_(153353546_?)dup, NCBI36: NC_000005.8:g.(?_129211386)_(152713299_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138808.5, VCV000149858.2 | 3 |