nsv6634557
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:213,024
- Description:NC_000007.14:g.(83833300_?)_(?_84046323)del AND Hypogonadotropic hypogonadism 16 with or without anosmia
- Publication(s):Balasubramanian et al. 2007, Hanchate et al. 2012, Young et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 666 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 666 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6634557 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 83,833,300 | 84,046,323 | ||
nsv6634557 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 83,462,616 | 83,675,639 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18326483 | deletion | Multiple | Multiple | HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16; Hypogonadotropic hypogonadism 16 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants | risk factor | ClinVar | RCV000032920.2, VCV000039715.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18326483 | Submitted genomic | NC_000007.14:g.(83 833300_?)_(?_84046 323)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 83,833,300 | 84,046,323 | ||
nssv18326483 | Remapped | Perfect | NC_000007.13:g.(83 462616_?)_(?_83675 639)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 83,462,616 | 83,675,639 |
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 |
---|---|---|---|---|---|---|---|
nssv18326483 | GRCh38: NC_000007.14:g.(83833300_?)_(?_84046323)del | deletion | germline | HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16; Hypogonadotropic hypogonadism 16 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants | risk factor | ClinVar | RCV000032920.2, VCV000039715.1 |