nsv898870
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,175
- Publication(s):Xu et al. 2011
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: 376 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv898870 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 20,847,652 | 20,854,784 | 20,861,335 | 20,862,826 |
nsv898870 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 21,000,586 | 21,007,718 | 21,014,269 | 21,015,760 |
nsv898870 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 20,891,853 | 20,898,985 | 20,905,536 | 20,907,027 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1574210 | copy number loss | IS33530 | SNP array | SNP genotyping analysis | 24 |
nssv1583255 | copy number gain | IS36364 | SNP array | SNP genotyping analysis | 27 |
nssv1597761 | copy number gain | IS41179 | SNP array | SNP genotyping analysis | 12 |
nssv1600639 | copy number gain | IS41906 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv1574210 | Remapped | Perfect | NC_000012.12:g.(20 847652_20854784)_( 20861335_20862826) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,847,652 | 20,854,784 | 20,861,335 | 20,862,826 |
nssv1583255 | Remapped | Perfect | NC_000012.12:g.(20 847652_20854784)_( 20861335_20862826) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,847,652 | 20,854,784 | 20,861,335 | 20,862,826 |
nssv1597761 | Remapped | Perfect | NC_000012.12:g.(20 847652_20854784)_( 20861335_20862826) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,847,652 | 20,854,784 | 20,861,335 | 20,862,826 |
nssv1600639 | Remapped | Perfect | NC_000012.12:g.(20 847652_20854784)_( 20861335_20862826) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,847,652 | 20,854,784 | 20,861,335 | 20,862,826 |
nssv1574210 | Remapped | Perfect | NC_000012.11:g.(21 000586_21007718)_( 21014269_21015760) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 21,000,586 | 21,007,718 | 21,014,269 | 21,015,760 |
nssv1583255 | Remapped | Perfect | NC_000012.11:g.(21 000586_21007718)_( 21014269_21015760) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 21,000,586 | 21,007,718 | 21,014,269 | 21,015,760 |
nssv1597761 | Remapped | Perfect | NC_000012.11:g.(21 000586_21007718)_( 21014269_21015760) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 21,000,586 | 21,007,718 | 21,014,269 | 21,015,760 |
nssv1600639 | Remapped | Perfect | NC_000012.11:g.(21 000586_21007718)_( 21014269_21015760) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 21,000,586 | 21,007,718 | 21,014,269 | 21,015,760 |
nssv1574210 | Submitted genomic | NC_000012.10:g.(20 891853_20898985)_( 20905536_20907027) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 20,891,853 | 20,898,985 | 20,905,536 | 20,907,027 | ||
nssv1583255 | Submitted genomic | NC_000012.10:g.(20 891853_20898985)_( 20905536_20907027) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 20,891,853 | 20,898,985 | 20,905,536 | 20,907,027 | ||
nssv1597761 | Submitted genomic | NC_000012.10:g.(20 891853_20898985)_( 20905536_20907027) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 20,891,853 | 20,898,985 | 20,905,536 | 20,907,027 | ||
nssv1600639 | Submitted genomic | NC_000012.10:g.(20 891853_20898985)_( 20905536_20907027) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 20,891,853 | 20,898,985 | 20,905,536 | 20,907,027 |