nsv3067104
- Organism: Homo sapiens
- Study:nstd141 (Rambo-Martin et al. 2018)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,436
- Publication(s):Rambo-Martin et al. 2018
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: 631 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 636 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067104 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nsv3067104 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14038666 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038670 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038673 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038691 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038700 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038701 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038703 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038710 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038712 | copy number gain | Oligo aCGH | Probe signal intensity |
| nssv14038719 | copy number gain | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038666 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038670 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038673 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038691 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038700 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038701 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038703 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038710 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038712 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038719 | Remapped | Perfect | NC_000021.9:g.(?_4 3403071)_(43417506 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,403,071 | 43,417,506 |
| nssv14038666 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038670 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038673 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038691 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038700 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038701 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038703 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038710 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038712 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 | ||
| nssv14038719 | Submitted genomic | NC_000021.8:g.(?_4 4822951)_(44837386 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,951 | 44,837,386 |