nsv930457
- Organism: Homo sapiens
- Study:nstd76 (Watson et al. 2013)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,213
- Publication(s):Watson et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3007 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1987 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 2700 SVs from 90 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv930457 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,260,053 | 106,260,053 | 106,271,265 | 106,271,265 |
nsv930457 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 727,822 | 727,822 | 739,034 | 739,034 |
nsv930457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,716,650 | 106,717,023 | 106,727,488 | 106,727,861 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1607654 | tandem duplication | Sequencing | Sequence alignment |
nssv1607655 | tandem duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv1607654 | Remapped | Good | NT_187600.1:g.(727 822_727822)_(73903 4_739034)dup | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 727,822 | 727,822 | 739,034 | 739,034 |
nssv1607655 | Remapped | Good | NT_187600.1:g.(727 822_727822)_(73903 4_739034)dup | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 727,822 | 727,822 | 739,034 | 739,034 |
nssv1607654 | Remapped | Good | NC_000014.9:g.(106 260053_106260053)_ (106271265_1062712 65)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,260,053 | 106,260,053 | 106,271,265 | 106,271,265 |
nssv1607655 | Remapped | Good | NC_000014.9:g.(106 260053_106260053)_ (106271265_1062712 65)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,260,053 | 106,260,053 | 106,271,265 | 106,271,265 |
nssv1607654 | Submitted genomic | NC_000014.8:g.(106 716650_106717023)_ (106727488_1067278 61)dup10800 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,716,650 | 106,717,023 | 106,727,488 | 106,727,861 | ||
nssv1607655 | Submitted genomic | NC_000014.8:g.(106 716650_106717023)_ (106727488_1067278 61)dup10800 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,716,650 | 106,717,023 | 106,727,488 | 106,727,861 |