nsv6627664
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:110,731
- Publication(s):Zarrei et al. 2023
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: 2406 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1163 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1161 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2404 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627664 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nsv6627664 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nsv6627664 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nsv6627664 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18295281 | deletion | OSC4504 | SNP array | Probe signal intensity | 7 |
| nssv18295536 | deletion | OSC4515 | SNP array | Probe signal intensity | 8 |
| nssv18295682 | deletion | OSC4625 | SNP array | Probe signal intensity | nssv18295454, nssv18295999, nssv18296340 |
| nssv18295715 | deletion | OSC4653 | SNP array | Probe signal intensity | 5 |
| nssv18322847 | deletion | OSC0150 | SNP array | Probe signal intensity | 5 |
| nssv18325287 | deletion | OSC1897 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18295281 | Remapped | Good | NT_187647.1:g.(?_2 5708)_(136078_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nssv18295536 | Remapped | Good | NT_187647.1:g.(?_2 5708)_(136078_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nssv18295682 | Remapped | Good | NT_187647.1:g.(?_2 5708)_(136078_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nssv18295715 | Remapped | Good | NT_187647.1:g.(?_2 5708)_(136078_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nssv18322847 | Remapped | Good | NT_187647.1:g.(?_2 5708)_(136078_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nssv18325287 | Remapped | Good | NT_187647.1:g.(?_2 5708)_(136078_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,708 | 136,078 |
| nssv18295281 | Remapped | Pass | NT_187523.1:g.(?_2 5708)_(136438_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nssv18295536 | Remapped | Pass | NT_187523.1:g.(?_2 5708)_(136438_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nssv18295682 | Remapped | Pass | NT_187523.1:g.(?_2 5708)_(136438_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nssv18295715 | Remapped | Pass | NT_187523.1:g.(?_2 5708)_(136438_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nssv18322847 | Remapped | Pass | NT_187523.1:g.(?_2 5708)_(136438_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nssv18325287 | Remapped | Pass | NT_187523.1:g.(?_2 5708)_(136438_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,708 | 136,438 |
| nssv18295281 | Remapped | Perfect | NC_000002.12:g.(?_ 241987013)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nssv18295536 | Remapped | Perfect | NC_000002.12:g.(?_ 241987013)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nssv18295682 | Remapped | Perfect | NC_000002.12:g.(?_ 241987013)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nssv18295715 | Remapped | Perfect | NC_000002.12:g.(?_ 241987013)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nssv18322847 | Remapped | Perfect | NC_000002.12:g.(?_ 241987013)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nssv18325287 | Remapped | Perfect | NC_000002.12:g.(?_ 241987013)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,013 | 242,092,368 |
| nssv18295281 | Submitted genomic | NC_000002.11:g.(?_ 242929164)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 | ||
| nssv18295536 | Submitted genomic | NC_000002.11:g.(?_ 242929164)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 | ||
| nssv18295682 | Submitted genomic | NC_000002.11:g.(?_ 242929164)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 | ||
| nssv18295715 | Submitted genomic | NC_000002.11:g.(?_ 242929164)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 | ||
| nssv18322847 | Submitted genomic | NC_000002.11:g.(?_ 242929164)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 | ||
| nssv18325287 | Submitted genomic | NC_000002.11:g.(?_ 242929164)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,164 | 243,034,519 |