nsv3910740
- 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:603,428
- Description:GRCh38/hg38 5q12.2-12.3(chr5:63826033-64429460)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: 1045 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1045 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 63,826,033 | 64,429,460 |
| nsv3910740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 63,121,860 | 63,725,287 |
| nsv3910740 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 63,157,616 | 63,761,043 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138929 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141875.4, VCV000153515.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138929 | Submitted genomic | NC_000005.10:g.(?_ 63826033)_(6442946 0_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 63,826,033 | 64,429,460 |
| nssv15138929 | Submitted genomic | NC_000005.9:g.(?_6 3121860)_(63725287 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,121,860 | 63,725,287 |
| nssv15138929 | Submitted genomic | NC_000005.8:g.(?_6 3157616)_(63761043 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 63,157,616 | 63,761,043 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138929 | GRCh37: NC_000005.9:g.(?_63121860)_(63725287_?)dup, GRCh38: NC_000005.10:g.(?_63826033)_(64429460_?)dup, NCBI36: NC_000005.8:g.(?_63157616)_(63761043_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141875.4, VCV000153515.2 | 3 |