nsv6625295
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,959
- 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: 1171 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1019 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 980 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1015 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1058 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625295 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,217,138 | 54,239,089 |
| nsv6625295 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 192,121 | 214,079 |
| nsv6625295 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 192,121 | 214,077 |
| nsv6625295 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 192,124 | 214,078 |
| nsv6625295 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 191,938 | 213,862 |
| nsv6625295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,721,007 | 54,742,965 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281657 | duplication | OSC2058 | SNP array | Probe signal intensity | 14 |
| nssv18284112 | duplication | OSC2488 | SNP array | Probe signal intensity | nssv18283436, nssv18284716, nssv18284717 |
| nssv18296579 | deletion | OSC0492 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281657 | Remapped | Perfect | NT_187693.1:g.(?_1 92121)_(214079_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 192,121 | 214,079 |
| nssv18284112 | Remapped | Perfect | NT_187693.1:g.(?_1 92121)_(214079_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 192,121 | 214,079 |
| nssv18296579 | Remapped | Perfect | NT_187693.1:g.(?_1 92121)_(214079_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 192,121 | 214,079 |
| nssv18281657 | Remapped | Good | NW_003571061.2:g.( ?_192121)_(214077_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 192,121 | 214,077 |
| nssv18284112 | Remapped | Good | NW_003571061.2:g.( ?_192121)_(214077_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 192,121 | 214,077 |
| nssv18296579 | Remapped | Good | NW_003571061.2:g.( ?_192121)_(214077_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 192,121 | 214,077 |
| nssv18281657 | Remapped | Good | NW_003571060.1:g.( ?_192124)_(214078_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 192,124 | 214,078 |
| nssv18284112 | Remapped | Good | NW_003571060.1:g.( ?_192124)_(214078_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 192,124 | 214,078 |
| nssv18296579 | Remapped | Good | NW_003571060.1:g.( ?_192124)_(214078_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 192,124 | 214,078 |
| nssv18281657 | Remapped | Good | NW_003571054.1:g.( ?_191938)_(213862_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 191,938 | 213,862 |
| nssv18284112 | Remapped | Good | NW_003571054.1:g.( ?_191938)_(213862_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 191,938 | 213,862 |
| nssv18296579 | Remapped | Good | NW_003571054.1:g.( ?_191938)_(213862_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 191,938 | 213,862 |
| nssv18281657 | Remapped | Good | NC_000019.10:g.(?_ 54217138)_(5423908 9_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,217,138 | 54,239,089 |
| nssv18284112 | Remapped | Good | NC_000019.10:g.(?_ 54217138)_(5423908 9_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,217,138 | 54,239,089 |
| nssv18296579 | Remapped | Good | NC_000019.10:g.(?_ 54217138)_(5423908 9_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,217,138 | 54,239,089 |
| nssv18281657 | Submitted genomic | NC_000019.9:g.(?_5 4721007)_(54742965 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,721,007 | 54,742,965 | ||
| nssv18284112 | Submitted genomic | NC_000019.9:g.(?_5 4721007)_(54742965 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,721,007 | 54,742,965 | ||
| nssv18296579 | Submitted genomic | NC_000019.9:g.(?_5 4721007)_(54742965 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,721,007 | 54,742,965 |