nsv3115068
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,873
- Publication(s):Lu et al. 2017
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: 946 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 490 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 1084 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3115068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nsv3115068 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nsv3115068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14102631 | deletion | sample33 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14102857 | deletion | sample139 | Oligo aCGH | Probe signal intensity | 46 |
| nssv14102960 | deletion | sample250 | Oligo aCGH | Probe signal intensity | 77 |
| nssv14102970 | deletion | sample254 | Oligo aCGH | Probe signal intensity | 65 |
| nssv14103066 | deletion | sample300 | Oligo aCGH | Probe signal intensity | 97 |
| nssv14103140 | deletion | sample334 | Oligo aCGH | Probe signal intensity | 36 |
| nssv14103551 | deletion | sample144 | Oligo aCGH | Probe signal intensity | 25 |
| nssv14103568 | deletion | sample149 | Oligo aCGH | Probe signal intensity | 73 |
| nssv14103662 | deletion | sample191 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14103668 | deletion | sample193 | Oligo aCGH | Probe signal intensity | 31 |
| nssv14103715 | deletion | sample219 | Oligo aCGH | Probe signal intensity | 38 |
| nssv14103725 | deletion | sample224 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14104017 | deletion | sample422 | Oligo aCGH | Probe signal intensity | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14102631 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14102857 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14102960 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14102970 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103066 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103140 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103551 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103568 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103662 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103668 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103715 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14103725 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14104017 | Remapped | Perfect | NT_187633.1:g.(?_1 69174)_(182046_?)d el | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 169,174 | 182,046 |
| nssv14102631 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14102857 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14102960 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14102970 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103066 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103140 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103551 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103568 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103662 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103668 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103715 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14103725 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14104017 | Remapped | Perfect | NC_000022.11:g.(?_ 23932812)_(2394568 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,932,812 | 23,945,684 |
| nssv14102631 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14102857 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14102960 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14102970 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103066 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103140 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103551 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103568 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103662 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103668 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103715 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14103725 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 | ||
| nssv14104017 | Submitted genomic | NC_000022.10:g.(?_ 24274999)_(2428787 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,274,999 | 24,287,871 |