nsv4681495
- 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:36,638
- Description:NC_000008.11:g.(?_38424489)_(38461126_?)del AND multiple conditions
- Publication(s):Balasubramanian et al. 2007, Robin et al. 1998
- ClinVar: RCV001032928.3
- ClinVar: VCV000832441.3
- GeneReviews: NBK1334
- MONDO: 0007043
- MONDO: 0007844
- MedGen: C0220658
- MedGen: C1563720
- OMIM: 101600
- OMIM: 136350.0004
- OMIM: 136350.0013
- OMIM: 136350.0014
- OMIM: 136350.0015
- OMIM: 136350.0016
- OMIM: 136350.0020
- OMIM: 136350.0023
- OMIM: 136350.0024
- OMIM: 136350.0025
- OMIM: 147950
- Orphanet: 478
- Orphanet: 710
- PubMed: 20301509
- PubMed: 20301628
- Overlapping Genes
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: 158 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 38,424,489 | 38,461,126 |
| nsv4681495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 38,282,007 | 38,318,644 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214617 | deletion | Multiple | Multiple | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2; Hypogonadotropic hypogonadism 2 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; PFEIFFER SYNDROME; Pfeiffer syndrome; Pfeiffer syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001032928.3, VCV000832441.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214617 | Remapped | Perfect | NC_000008.11:g.(?_ 38424489)_(3846112 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 38,424,489 | 38,461,126 |
| nssv16214617 | Submitted genomic | NC_000008.10:g.(?_ 38282007)_(3831864 4_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 38,282,007 | 38,318,644 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214617 | GRCh37: NC_000008.10:g.(?_38282007)_(38318644_?)del | deletion | germline | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2; Hypogonadotropic hypogonadism 2 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; PFEIFFER SYNDROME; Pfeiffer syndrome; Pfeiffer syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001032928.3, VCV000832441.3 |