nsv7095246
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:222
- Description:NC_000001.10:g.(?_155261527)_(155261748_?)del 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: 128 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7095246 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 155,291,736 | 155,291,957 |
nsv7095246 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315906.1 | Chr1|NW_00 3315906.1 | 96,759 | 96,980 |
nsv7095246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,261,527 | 155,261,748 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18788950 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003110968.2, VCV002422834.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18788950 | Remapped | Perfect | NW_003315906.1:g.( ?_96759)_(96980_?) del | GRCh38.p12 | Second Pass | NW_003315906.1 | Chr1|NW_00 3315906.1 | 96,759 | 96,980 |
nssv18788950 | Remapped | Perfect | NC_000001.11:g.(?_ 155291736)_(155291 957_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 155,291,736 | 155,291,957 |
nssv18788950 | Submitted genomic | NC_000001.10:g.(?_ 155261527)_(155261 748_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,261,527 | 155,261,748 |
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 |
---|---|---|---|---|---|---|---|
nssv18788950 | GRCh37: NC_000001.10:g.(?_155261527)_(155261748_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003110968.2, VCV002422834.2 |