nsv4349618
- 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:75,200
- Description:GRCh37/hg19 7q21.11(chr7:83664877-83740076) AND Hypogonadotropic hypogonadism 16 with or without anosmia
- Publication(s):Balasubramanian et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 374 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 374 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349618 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 84,035,561 | 84,110,760 |
| nsv4349618 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 83,664,877 | 83,740,076 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605842 | copy number loss | 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 | Pathogenic | ClinVar | RCV000767641.1, VCV000625633.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605842 | Remapped | Perfect | NC_000007.14:g.(?_ 84035561)_(8411076 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 84,035,561 | 84,110,760 |
| nssv15605842 | Submitted genomic | NC_000007.13:g.(?_ 83664877)_(8374007 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 83,664,877 | 83,740,076 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605842 | GRCh37: NC_000007.13:g.(?_83664877)_(83740076_?)del | copy number loss | paternal | 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 | Pathogenic | ClinVar | RCV000767641.1, VCV000625633.1 |