nsv996317
- Organism: Homo sapiens
- Study:nstd93 (Lindstrand et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Publication(s):Lindstrand et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 154 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv996317 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 66,507,369 | 66,525,103 |
| nsv996317 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,274,840 | 66,292,574 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number | Zygosity |
|---|---|---|---|---|---|---|---|---|---|
| nssv3397476 | copy number loss | AR888-03 | Oligo aCGH | Probe signal intensity | BARDET-BIEDL SYNDROME 1; BBS1 | Pathogenic | Submitter | 1 | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3397476 | Remapped | Perfect | NC_000011.10:g.665 07369_66525103del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 66,507,369 | 66,525,103 |
| nssv3397476 | Submitted genomic | NC_000011.9:g.6627 4840_66292574del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,274,840 | 66,292,574 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv3397476 | 2 | AR888-03 | Sequencing | Sequence alignment | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv3397476 | AR888-03 | GRCh37: NC_000011.9:g.66274840_66292574del | copy number loss | paternal | BARDET-BIEDL SYNDROME 1; BBS1 | Pathogenic | Submitter | Female | 1 |