nsv5673172
- 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:127
- Description:NC_000001.10:g.(?_243652316)_(243652442_?)dup AND multiple conditions
- Publication(s):Forsythe et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 111 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673172 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 243,489,014 | 243,489,140 |
| nsv5673172 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187519.1 | Chr1|NT_18 7519.1 | 501,122 | 501,248 |
| nsv5673172 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 243,652,316 | 243,652,442 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172216 | duplication | Multiple | Multiple | BARDET-BIEDL SYNDROME 16; BBS16; Bardet-Biedl syndrome; Bardet-Biedl syndrome 16; SENIOR-LOKEN SYNDROME 7; SLSN7; Senior-Loken syndrome; Senior-Loken syndrome 7 | Likely pathogenic | ClinVar | RCV001378516.4, VCV001067297.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172216 | Remapped | Perfect | NT_187519.1:g.(?_5 01122)_(501248_?)d up | GRCh38.p12 | Second Pass | NT_187519.1 | Chr1|NT_18 7519.1 | 501,122 | 501,248 |
| nssv17172216 | Remapped | Perfect | NC_000001.11:g.(?_ 243489014)_(243489 140_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 243,489,014 | 243,489,140 |
| nssv17172216 | Submitted genomic | NC_000001.10:g.(?_ 243652316)_(243652 442_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 243,652,316 | 243,652,442 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172216 | GRCh37: NC_000001.10:g.(?_243652316)_(243652442_?)dup | duplication | germline | BARDET-BIEDL SYNDROME 16; BBS16; Bardet-Biedl syndrome; Bardet-Biedl syndrome 16; SENIOR-LOKEN SYNDROME 7; SLSN7; Senior-Loken syndrome; Senior-Loken syndrome 7 | Likely pathogenic | ClinVar | RCV001378516.4, VCV001067297.4 |