nsv7098719
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:60
- Description:NM_000524.4(HTR1A):c.980_1039del (p.Arg327_Thr346del) AND Menstrual cycle-dependent periodic fever
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 67 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7098719 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 63,960,681 | 63,960,740 |
| nsv7098719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 63,256,508 | 63,256,567 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792871 | deletion | Multiple | Multiple | Menstrual cycle-dependent periodic fever; PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT | Uncertain significance | ClinVar | RCV003225791.6, VCV002431430.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792871 | Submitted genomic | NC_000005.10:g.639 60681_63960740del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 63,960,681 | 63,960,740 |
| nssv18792871 | Submitted genomic | NC_000005.9:g.6325 6508_63256567del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,256,508 | 63,256,567 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792871 | GRCh37: NC_000005.9:g.63256508_63256567del, GRCh38: NC_000005.10:g.63960681_63960740del | deletion | germline | Menstrual cycle-dependent periodic fever; PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT | Uncertain significance | ClinVar | RCV003225791.6, VCV002431430.2 |