nsv6622356
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,951
- 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: 1964 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1359 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 2239 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622356 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nsv6622356 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nsv6622356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282414 | duplication | OSC2155 | SNP array | Probe signal intensity | 5 |
| nssv18282801 | duplication | OSC0227 | SNP array | Probe signal intensity | 9 |
| nssv18286702 | deletion | OSC3009 | SNP array | Probe signal intensity | nssv18287603, nssv18287602, nssv18287604 |
| nssv18289765 | deletion | OSC3457 | SNP array | Probe signal intensity | 8 |
| nssv18290848 | deletion | OSC3817 | SNP array | Probe signal intensity | 5 |
| nssv18293641 | duplication | OSC4007 | SNP array | Probe signal intensity | 7 |
| nssv18295513 | deletion | OSC4490 | SNP array | Probe signal intensity | 5 |
| nssv18301236 | deletion | OSC5539 | SNP array | Probe signal intensity | nssv18301237, nssv18300585, nssv18301238 |
| nssv18325479 | duplication | OSC1827 | SNP array | Probe signal intensity | nssv18325737, nssv18325181 |
| nssv18326096 | duplication | OSC1984 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282414 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)du p | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18282801 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)du p | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18286702 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)de l | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18289765 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)de l | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18290848 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)de l | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18293641 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)du p | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18295513 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)de l | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18301236 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)de l | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18325479 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)du p | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18326096 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(128762_?)du p | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 128,762 |
| nssv18282414 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18282801 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18286702 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18289765 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18290848 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18293641 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18295513 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18301236 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18325479 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18326096 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056609 93_?)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,660,993 |
| nssv18282414 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18282801 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18286702 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18289765 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18290848 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18293641 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18295513 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18301236 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18325479 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 | ||
| nssv18326096 | Submitted genomic | NC_000014.8:g.(?_1 06047905)_(1061273 30_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,047,905 | 106,127,330 |