nsv7093108
- 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:54
- Description:NM_003482.4(KMT2D):c.2264_2317del (p.Arg755_Pro772del) AND Inborn genetic diseases
- Publication(s):Blout et al. 2013, Botkin et al. 2014, Cornel et al. 2013, Edwards et al. 2015, Fears et al. 2012, Grody et al. 2013, Howard et al. 2015, Langer et al. 2012, No authors et al. 2019, Skirton et al. 2013, Teckman et al. 2014, Therrell et al. 2012
- ClinVar: RCV002684417.1
- ClinVar: VCV002382264.1
- MeSH: D030342
- MedGen: C0950123
- PubMed: 22947299
- PubMed: 23037933
- PubMed: 23169492
- PubMed: 23619275
- PubMed: 23652378
- PubMed: 23881473
- PubMed: 24022298
- PubMed: 24121147
- PubMed: 24394680
- PubMed: 25626707
- PubMed: 25730230
- PubMed: 31022120
- 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: 71 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093108 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 49,051,366 | 49,051,419 |
| nsv7093108 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 49,445,149 | 49,445,202 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786431 | deletion | Multiple | Multiple | Genetic Diseases, Inborn; Inborn genetic diseases | Likely benign | ClinVar | RCV002684417.1, VCV002382264.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786431 | Submitted genomic | NC_000012.12:g.490 51366_49051419del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 49,051,366 | 49,051,419 |
| nssv18786431 | Submitted genomic | NC_000012.11:g.494 45149_49445202del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 49,445,149 | 49,445,202 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786431 | GRCh37: NC_000012.11:g.49445149_49445202del, GRCh38: NC_000012.12:g.49051366_49051419del | deletion | germline | Genetic Diseases, Inborn; Inborn genetic diseases | Likely benign | ClinVar | RCV002684417.1, VCV002382264.1 |