nsv4375546
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,595
- Publication(s):Zarrei et al. 2019
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: 795 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 638 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 795 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nsv4375546 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nsv4375546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15618577 | copy number loss | 1-0845-003 | SNP array | Genotyping | 36 |
| nssv15627109 | copy number loss | 1-0055-004 | SNP array | Genotyping | 19 |
| nssv15628803 | copy number loss | 1-0553-003 | SNP array | Genotyping | 34 |
| nssv15629793 | copy number loss | 1-0578-003 | SNP array | Genotyping | 24 |
| nssv15645618 | copy number loss | 16-1020-001 | SNP array | Genotyping | 18 |
| nssv15651102 | copy number loss | 2-1415-004 | SNP array | Genotyping | 17 |
| nssv15655040 | copy number loss | 2-1646-003 | SNP array | Genotyping | 26 |
| nssv15661170 | copy number loss | 5-0054-001 | SNP array | Genotyping | 20 |
| nssv15663326 | copy number loss | 4-0062-004 | SNP array | Genotyping | 20 |
| nssv15673801 | copy number loss | 9-0013-003 | SNP array | Genotyping | 22 |
| nssv15679715 | copy number loss | 192215 | SNP array | Genotyping | 24 |
| nssv15683650 | copy number loss | OCD137-0625-2972-2 | SNP array | Genotyping | 28 |
| nssv15684037 | copy number loss | OCD147-DS-1432 | SNP array | Genotyping | 22 |
| nssv15700956 | copy number loss | 144445 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15618577 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15627109 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15628803 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15629793 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15645618 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15651102 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15655040 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15661170 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15663326 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15673801 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15679715 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15683650 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15684037 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15700956 | Remapped | Perfect | NW_003315915.1:g.( ?_277843)_(315437_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 277,843 | 315,437 |
| nssv15618577 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15627109 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15628803 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15629793 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15645618 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15651102 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15655040 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15661170 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15663326 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15673801 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15679715 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15683650 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15684037 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15700956 | Remapped | Perfect | NC_000004.12:g.(?_ 34785514)_(3482310 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,785,514 | 34,823,108 |
| nssv15618577 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15627109 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15628803 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15629793 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15645618 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15651102 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15655040 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15661170 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15663326 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15673801 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15679715 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15683650 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15684037 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 | ||
| nssv15700956 | Submitted genomic | NC_000004.11:g.(?_ 34787136)_(3482473 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,787,136 | 34,824,730 |