nsv7093311
- 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:2
- Description:NM_003482.4(KMT2D):c.1367_1420dup (p.Glu473_Leu474insSerProThrSerProProProGluAlaSerArgLeuSerProProProGluGlu) AND Kabuki syndrome
- Publication(s):Adam et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 69 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093311 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 49,052,262 | 49,052,263 |
| nsv7093311 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 49,446,045 | 49,446,046 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786488 | duplication | Multiple | Multiple | KABUKI SYNDROME 1; KABUK1; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome | Uncertain significance | ClinVar | RCV002908448.1, VCV002043118.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786488 | Submitted genomic | NC_000012.12:g.490 52262_49052263dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 49,052,262 | 49,052,263 |
| nssv18786488 | Submitted genomic | NC_000012.11:g.494 46045_49446046dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 49,446,045 | 49,446,046 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786488 | GRCh37: NC_000012.11:g.49446045_49446046dup, GRCh38: NC_000012.12:g.49052262_49052263dup | duplication | germline | KABUKI SYNDROME 1; KABUK1; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome | Uncertain significance | ClinVar | RCV002908448.1, VCV002043118.1 |