nsv7098552
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:199,042
- Description:
See descriptions for individual calls in download files - Publication(s):Balasubramanian et al. 2007
- ClinVar: RCV003122185.2
- ClinVar: RCV003122186.2
- ClinVar: VCV002422590.2
- ClinVar: VCV002422591.2
- GeneReviews: NBK1334
- MONDO: 0010635
- MedGen: C1563719
- OMIM: 300836.0001
- OMIM: 300836.0002
- OMIM: 300836.0003
- OMIM: 300836.0004
- OMIM: 300836.0005
- OMIM: 300836.0006
- OMIM: 300836.0007
- OMIM: 300836.0008
- OMIM: 300836.0009
- OMIM: 300836.0010
- OMIM: 300836.0011
- OMIM: 300836.0012
- OMIM: 300836.0013
- OMIM: 300836.0014
- OMIM: 308700
- Orphanet: 478
- PubMed: 20301509
- 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: 506 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098552 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 8,532,995 | 8,732,036 |
| nsv7098552 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 8,501,036 | 8,700,077 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787202 | deletion | Multiple | Multiple | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003122185.2, VCV002422590.2 |
| nssv18787203 | duplication | Multiple | Multiple | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003122186.2, VCV002422591.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787202 | Remapped | Perfect | NC_000023.11:g.(?_ 8532995)_(8732036_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,532,995 | 8,732,036 |
| nssv18787203 | Remapped | Perfect | NC_000023.11:g.(?_ 8532995)_(8732036_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,532,995 | 8,732,036 |
| nssv18787202 | Submitted genomic | NC_000023.10:g.(?_ 8501036)_(8700077_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,501,036 | 8,700,077 | ||
| nssv18787203 | Submitted genomic | NC_000023.10:g.(?_ 8501036)_(8700077_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,501,036 | 8,700,077 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787202 | GRCh37: NC_000023.10:g.(?_8501036)_(8700077_?)del | deletion | germline | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003122185.2, VCV002422590.2 |
| nssv18787203 | GRCh37: NC_000023.10:g.(?_8501036)_(8700077_?)dup | duplication | germline | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003122186.2, VCV002422591.2 |