nsv7095205
- 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:1,693,484
- Description:
See descriptions for individual calls in download files - Publication(s):Berglund et al. 2012, Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group et al. 2013, Tranebjærg et al. 2009
- ClinVar: RCV003107444.3
- ClinVar: RCV003122562.3
- ClinVar: VCV002424211.11
- HP: 0005978
- MONDO: 0005148
- MONDO: 0009416
- MeSH: D003924
- MedGen: C0011860
- MedGen: C3278384
- MedGen: CN517202
- OMIM: 125853
- OMIM: 240900
- Orphanet: 293964
- PubMed: 20301750
- PubMed: 22962670
- PubMed: 23492873
- 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: 5693 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 5742 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095205 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 38,714,449 | 40,407,932 |
| nsv7095205 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 39,205,089 | 40,913,839 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787564 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122562.3, VCV002424211.11 |
| nssv18791998 | duplication | Multiple | Multiple | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; Diabetes Mellitus, Type 2; Diabetes mellitus type 2; HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH; Hypoinsulinemic hypoglycemia and body hemihypertrophy; Hypoinsulinemic hypoglycemia and body hemihypertrophy; Type II diabetes mellitus | Uncertain significance | ClinVar | RCV003107444.3, VCV002424211.11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787564 | Remapped | Good | NC_000019.10:g.(?_ 38714449)_(4040793 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 38,714,449 | 40,407,932 |
| nssv18791998 | Remapped | Good | NC_000019.10:g.(?_ 38714449)_(4040793 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 38,714,449 | 40,407,932 |
| nssv18787564 | Submitted genomic | NC_000019.9:g.(?_3 9205089)_(40913839 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 39,205,089 | 40,913,839 | ||
| nssv18791998 | Submitted genomic | NC_000019.9:g.(?_3 9205089)_(40913839 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 39,205,089 | 40,913,839 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787564 | GRCh37: NC_000019.9:g.(?_39205089)_(40913839_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003122562.3, VCV002424211.11 |
| nssv18791998 | GRCh37: NC_000019.9:g.(?_39205089)_(40913839_?)dup | duplication | germline | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; Diabetes Mellitus, Type 2; Diabetes mellitus type 2; HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH; Hypoinsulinemic hypoglycemia and body hemihypertrophy; Hypoinsulinemic hypoglycemia and body hemihypertrophy; Type II diabetes mellitus | Uncertain significance | ClinVar | RCV003107444.3, VCV002424211.11 |