nsv5896
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:74,358
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001087622_F6'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001109622_H9'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001110422_M20'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001113222_F20'
- TRACE: TEMPLATE_ID='165432_ABC7_000042427400_L12'
- TRACE: TEMPLATE_ID='166941_ABC7_000043083400_H22'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000044456300_A22'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044490700_P9'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000046302600_E1'
- TRACE: TEMPLATE_ID='G248P802848A11'
- TRACE: TEMPLATE_ID='G248P83544G9'
- TRACE: TEMPLATE_ID='G248P88309F7'
- Overlapping Genes
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: 839 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 839 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5896 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 109,758,627 | 109,832,984 |
| nsv5896 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 109,398,684 | 109,473,041 |
| nsv5896 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 108,992,635 | 109,066,992 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv8415 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv11158 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv676 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv9445 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8415 | Remapped | Perfect | NC_000007.14:g.(10 9758627_?)_(?_1098 03256)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 109,758,627 | 109,803,256 |
| nssv11158 | Remapped | Perfect | NC_000007.14:g.(10 9786887_?)_(?_1098 21875)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 109,786,887 | 109,821,875 |
| nssv676 | Remapped | Perfect | NC_000007.14:g.(10 9788790_?)_(?_1098 27154)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 109,788,790 | 109,827,154 |
| nssv9445 | Remapped | Perfect | NC_000007.14:g.(10 9789995_?)_(?_1098 32984)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 109,789,995 | 109,832,984 |
| nssv8415 | Remapped | Perfect | NC_000007.13:g.(10 9398684_?)_(?_1094 43313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 109,398,684 | 109,443,313 |
| nssv11158 | Remapped | Perfect | NC_000007.13:g.(10 9426944_?)_(?_1094 61932)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 109,426,944 | 109,461,932 |
| nssv676 | Remapped | Perfect | NC_000007.13:g.(10 9428847_?)_(?_1094 67211)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 109,428,847 | 109,467,211 |
| nssv9445 | Remapped | Perfect | NC_000007.13:g.(10 9430052_?)_(?_1094 73041)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 109,430,052 | 109,473,041 |
| nssv8415 | Submitted genomic | NC_000007.11:g.(10 8992635_?)_(?_1090 37264)del5211 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 108,992,635 | 109,037,264 | ||
| nssv11158 | Submitted genomic | NC_000007.11:g.(10 9020895_?)_(?_1090 55883)del15939 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 109,020,895 | 109,055,883 | ||
| nssv676 | Submitted genomic | NC_000007.11:g.(10 9022798_?)_(?_1090 61162)del17007 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 109,022,798 | 109,061,162 | ||
| nssv9445 | Submitted genomic | NC_000007.11:g.(10 9024003_?)_(?_1090 66992)del18040 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 109,024,003 | 109,066,992 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv11158 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
| nssv9445 | 3 | SAMN00001588 | Multiple complete digestion | MCD analysis | Pass |