nsv4232
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:8
- Validation:Yes
- Clinical Assertions: No
- Region Size:71,511
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047088500_L11'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048010700_K20'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048221000_H22'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048333100_B10'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048039300_N20'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049604600_C18'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000945822_H12'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000001017122_H3'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001051714_A13'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001064814_G9'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050138500_C11'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050166700_A14'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050188500_N12'
- TRACE: TEMPLATE_ID='165431_ABC7_000042410700_C3'
- TRACE: TEMPLATE_ID='165432_ABC7_000042404800_I9'
- TRACE: TEMPLATE_ID='165532_ABC7_000042442000_C24'
- TRACE: TEMPLATE_ID='165631_ABC7_000040269800_C23'
- TRACE: TEMPLATE_ID='166791_ABC7_000043070400_H6'
- TRACE: TEMPLATE_ID='166910_ABC8_000042080800_K4'
- TRACE: TEMPLATE_ID='167000_ABC8_000002116740_L16'
- TRACE: TEMPLATE_ID='167098_ABC8_000000685522_J13'
- TRACE: TEMPLATE_ID='167098_ABC8_000040969200_E5'
- TRACE: TEMPLATE_ID='167098_ABC8_000041008400_D13'
- TRACE: TEMPLATE_ID='167098_ABC8_000041040400_M23'
- TRACE: TEMPLATE_ID='167098_ABC8_000041066800_D18'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044480800_K5'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044507100_A24'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044522800_H8'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044531000_F5'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044419100_P16'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044565100_C18'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000001608170_C18'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044658700_G22'
- TRACE: TEMPLATE_ID='174779_ABC12_000007920549_B18'
- TRACE: TEMPLATE_ID='174779_ABC12_000046340300_I3'
- TRACE: TEMPLATE_ID='174779_ABC12_000046966700_A18'
- TRACE: TEMPLATE_ID='174779_ABC12_000046991400_H2'
- TRACE: TEMPLATE_ID='174779_ABC12_000049170600_H6'
- TRACE: TEMPLATE_ID='174779_ABC12_000049225100_M5'
- TRACE: TEMPLATE_ID='178925_ABC12_000049234500_D20'
- TRACE: TEMPLATE_ID='G248P8586B8'
- TRACE: TEMPLATE_ID='G248P86848A8'
- TRACE: TEMPLATE_ID='G248P8855D9'
- TRACE: TEMPLATE_ID='G248P89427F12'
- TRACE: TEMPLATE_ID='G248P89453G1'
- 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: 433 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4232 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 207,516,277 | 207,587,787 |
| nsv4232 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 207,689,622 | 207,761,132 |
| nsv4232 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 204,078,017 | 204,149,527 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3695 | deletion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv2681 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv9390 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv6098 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv11178 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv9670 | deletion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv4934 | deletion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv453 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3695 | Remapped | Perfect | NC_000001.11:g.(20 7516277_?)_(?_2075 63378)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,516,277 | 207,563,378 |
| nssv2681 | Remapped | Perfect | NC_000001.11:g.(20 7519566_?)_(?_2075 66170)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,519,566 | 207,566,170 |
| nssv9390 | Remapped | Perfect | NC_000001.11:g.(20 7523221_?)_(?_2075 87787)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,523,221 | 207,587,787 |
| nssv6098 | Remapped | Perfect | NC_000001.11:g.(20 7523387_?)_(?_2075 73940)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,523,387 | 207,573,940 |
| nssv11178 | Remapped | Perfect | NC_000001.11:g.(20 7523529_?)_(?_2075 65981)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,523,529 | 207,565,981 |
| nssv9670 | Remapped | Perfect | NC_000001.11:g.(20 7523602_?)_(?_2075 64975)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,523,602 | 207,564,975 |
| nssv4934 | Remapped | Perfect | NC_000001.11:g.(20 7534031_?)_(?_2075 81340)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,534,031 | 207,581,340 |
| nssv453 | Remapped | Perfect | NC_000001.11:g.(20 7544388_?)_(?_2075 67188)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,544,388 | 207,567,188 |
| nssv3695 | Remapped | Perfect | NC_000001.10:g.(20 7689622_?)_(?_2077 36723)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,689,622 | 207,736,723 |
| nssv2681 | Remapped | Perfect | NC_000001.10:g.(20 7692911_?)_(?_2077 39515)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,692,911 | 207,739,515 |
| nssv9390 | Remapped | Perfect | NC_000001.10:g.(20 7696566_?)_(?_2077 61132)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,696,566 | 207,761,132 |
| nssv6098 | Remapped | Perfect | NC_000001.10:g.(20 7696732_?)_(?_2077 47285)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,696,732 | 207,747,285 |
| nssv11178 | Remapped | Perfect | NC_000001.10:g.(20 7696874_?)_(?_2077 39326)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,696,874 | 207,739,326 |
| nssv9670 | Remapped | Perfect | NC_000001.10:g.(20 7696947_?)_(?_2077 38320)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,696,947 | 207,738,320 |
| nssv4934 | Remapped | Perfect | NC_000001.10:g.(20 7707376_?)_(?_2077 54685)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,707,376 | 207,754,685 |
| nssv453 | Remapped | Perfect | NC_000001.10:g.(20 7717733_?)_(?_2077 40533)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,717,733 | 207,740,533 |
| nssv3695 | Submitted genomic | NC_000001.8:g.(204 078017_?)_(?_20412 5118)del33523 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,078,017 | 204,125,118 | ||
| nssv2681 | Submitted genomic | NC_000001.8:g.(204 081306_?)_(?_20412 7910)del18769 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,081,306 | 204,127,910 | ||
| nssv9390 | Submitted genomic | NC_000001.8:g.(204 084961_?)_(?_20414 9527)del34939 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,084,961 | 204,149,527 | ||
| nssv6098 | Submitted genomic | NC_000001.8:g.(204 085127_?)_(?_20413 5680)del19519 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,085,127 | 204,135,680 | ||
| nssv11178 | Submitted genomic | NC_000001.8:g.(204 085269_?)_(?_20412 7721)del19523 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,085,269 | 204,127,721 | ||
| nssv9670 | Submitted genomic | NC_000001.8:g.(204 085342_?)_(?_20412 6715)del27209 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,085,342 | 204,126,715 | ||
| nssv4934 | Submitted genomic | NC_000001.8:g.(204 095771_?)_(?_20414 3080)del17276 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,095,771 | 204,143,080 | ||
| nssv453 | Submitted genomic | NC_000001.8:g.(204 106128_?)_(?_20412 8928)del18298 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,106,128 | 204,128,928 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv11178 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
| nssv9670 | 6 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |
| nssv453 | 2 | NA19240 | Sequencing | Sequence alignment | Pass |
| nssv11178 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |