nsv4455596
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:709,844
- Description:GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1352 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1352 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 72,426,143 | 73,135,986 |
nsv4455596 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 71,721,970 | 72,431,813 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774819 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846431.2, VCV000685723.2 | 3 |
nssv15774820 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846432.2, VCV000685724.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774819 | Remapped | Perfect | NC_000005.10:g.(?_ 72426143)_(7313598 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 72,426,143 | 73,135,986 |
nssv15774820 | Remapped | Perfect | NC_000005.10:g.(?_ 72426143)_(7313598 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 72,426,143 | 73,135,986 |
nssv15774819 | Submitted genomic | NC_000005.9:g.(?_7 1721970)_(72431813 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 71,721,970 | 72,431,813 | ||
nssv15774820 | Submitted genomic | NC_000005.9:g.(?_7 1721970)_(72431813 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 71,721,970 | 72,431,813 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774819 | GRCh37: NC_000005.9:g.(?_71721970)_(72431813_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846431.2, VCV000685723.2 | 3 |
nssv15774820 | GRCh37: NC_000005.9:g.(?_71721970)_(72431813_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846432.2, VCV000685724.2 | 3 |