nsv471598
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164,576
- Publication(s):Sharp et al. 2005
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: 1900 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1900 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 4 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 |
---|---|---|---|---|---|---|---|---|---|
nsv471598 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 25,457,548 | 25,622,123 |
nsv471598 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 25,853,515 | 26,018,090 |
nsv471598 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000022.7 | Chr22 | 24,178,069 | 24,342,644 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv550105 | copy number gain | GM10469A | BAC aCGH | Probe signal intensity | 56 |
nssv550106 | copy number gain | GM10493 | BAC aCGH | Probe signal intensity | 65 |
nssv550107 | copy number loss | GM15731 | BAC aCGH | Probe signal intensity | 42 |
nssv550108 | copy number gain | GM17016 | BAC aCGH | Probe signal intensity | 47 |
nssv550109 | copy number gain | GM17020A | BAC aCGH | Probe signal intensity | 43 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv550105 | Remapped | Perfect | NC_000022.11:g.(?_ 25457548)_(2562212 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,457,548 | 25,622,123 |
nssv550106 | Remapped | Perfect | NC_000022.11:g.(?_ 25457548)_(2562212 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,457,548 | 25,622,123 |
nssv550107 | Remapped | Perfect | NC_000022.11:g.(?_ 25457548)_(2562212 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,457,548 | 25,622,123 |
nssv550108 | Remapped | Perfect | NC_000022.11:g.(?_ 25457548)_(2562212 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,457,548 | 25,622,123 |
nssv550109 | Remapped | Perfect | NC_000022.11:g.(?_ 25457548)_(2562212 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,457,548 | 25,622,123 |
nssv550105 | Remapped | Perfect | NC_000022.10:g.(?_ 25853515)_(2601809 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,853,515 | 26,018,090 |
nssv550106 | Remapped | Perfect | NC_000022.10:g.(?_ 25853515)_(2601809 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,853,515 | 26,018,090 |
nssv550107 | Remapped | Perfect | NC_000022.10:g.(?_ 25853515)_(2601809 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,853,515 | 26,018,090 |
nssv550108 | Remapped | Perfect | NC_000022.10:g.(?_ 25853515)_(2601809 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,853,515 | 26,018,090 |
nssv550109 | Remapped | Perfect | NC_000022.10:g.(?_ 25853515)_(2601809 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,853,515 | 26,018,090 |
nssv550105 | Submitted genomic | NC_000022.7:g.(?_2 4178069)_(24342644 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 24,178,069 | 24,342,644 | ||
nssv550106 | Submitted genomic | NC_000022.7:g.(?_2 4178069)_(24342644 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 24,178,069 | 24,342,644 | ||
nssv550107 | Submitted genomic | NC_000022.7:g.(?_2 4178069)_(24342644 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 24,178,069 | 24,342,644 | ||
nssv550108 | Submitted genomic | NC_000022.7:g.(?_2 4178069)_(24342644 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 24,178,069 | 24,342,644 | ||
nssv550109 | Submitted genomic | NC_000022.7:g.(?_2 4178069)_(24342644 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 24,178,069 | 24,342,644 |