nsv3112221
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,464
- 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: 853 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 669 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 853 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3112221 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nsv3112221 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nsv3112221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14083843 | deletion | sample177 | Oligo aCGH | Probe signal intensity | 84 |
| nssv14084288 | deletion | sample192 | Oligo aCGH | Probe signal intensity | 81 |
| nssv14089219 | deletion | sample170 | Oligo aCGH | Probe signal intensity | 62 |
| nssv14091756 | deletion | sample275 | Oligo aCGH | Probe signal intensity | 94 |
| nssv14095893 | deletion | sample318 | Oligo aCGH | Probe signal intensity | 88 |
| nssv14096204 | deletion | sample346 | Oligo aCGH | Probe signal intensity | 74 |
| nssv14098393 | deletion | sample359 | Oligo aCGH | Probe signal intensity | 103 |
| nssv14106871 | deletion | sample68 | Oligo aCGH | Probe signal intensity | 72 |
| nssv14107316 | deletion | sample102 | Oligo aCGH | Probe signal intensity | 95 |
| nssv14108982 | deletion | sample145 | Oligo aCGH | Probe signal intensity | 103 |
| nssv14109060 | deletion | sample146 | Oligo aCGH | Probe signal intensity | 105 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14083843 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14084288 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14089219 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14091756 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14095893 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14096204 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14098393 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14106871 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14107316 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14108982 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14109060 | Remapped | Pass | NW_018654707.1:g.( ?_44791)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 44,791 | 67,254 |
| nssv14083843 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14084288 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14089219 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14091756 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14095893 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14096204 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14098393 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14106871 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14107316 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14108982 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14109060 | Remapped | Perfect | NC_000001.11:g.(?_ 72332524)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,332,524 | 72,346,029 |
| nssv14083843 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14084288 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14089219 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14091756 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14095893 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14096204 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14098393 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14106871 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14107316 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14108982 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 | ||
| nssv14109060 | Submitted genomic | NC_000001.10:g.(?_ 72798207)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,798,207 | 72,811,712 |