nsv730
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:60,305
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201779_ABC13_2_1_000000700342_M20'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047480900_F9'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048051700_P7'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048059600_L14'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048553900_P22'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049751100_E4'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048694700_P18'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000910222_D4'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000946422_O5'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048855900_L15'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048858500_M24'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048870600_B22'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001113222_F17'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000955314_L24'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000984414_L24'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001037314_F21'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001050114_L15'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001050614_N8'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001079214_N11'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000008076149_A16'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000008077349_E9'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000008077349_M7'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050085800_E21'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050092400_C24'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050150600_N10'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050159500_I7'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050175200_P23'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050199000_O12'
- TRACE: TEMPLATE_ID='167000_ABC8_000002607140_O11'
- TRACE: TEMPLATE_ID='167098_ABC8_000040983300_F11'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000713922_E1'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041098800_H8'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041262600_N17'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043892900_I14'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000044456800_H4'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043951500_P22'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000043645200_E11'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044487100_I20'
- TRACE: TEMPLATE_ID='G248P82042C4'
- TRACE: TEMPLATE_ID='G248P83586E4'
- TRACE: TEMPLATE_ID='G248P84135E9'
- 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: 246 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 58,305,009 | 58,365,313 |
| nsv730 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 58,698,792 | 58,759,096 |
| nsv730 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 56,985,059 | 57,045,363 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv9839 | deletion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv10868 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv1088 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv9948 | deletion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv6510 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv5427 | deletion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv10905 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv9839 | Remapped | Perfect | NC_000012.12:g.(58 305009_?)_(?_58349 395)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,305,009 | 58,349,395 |
| nssv10868 | Remapped | Perfect | NC_000012.12:g.(58 306434_?)_(?_58340 899)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,306,434 | 58,340,899 |
| nssv1088 | Remapped | Perfect | NC_000012.12:g.(58 322392_?)_(?_58351 116)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,322,392 | 58,351,116 |
| nssv9948 | Remapped | Perfect | NC_000012.12:g.(58 323021_?)_(?_58365 313)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,323,021 | 58,365,313 |
| nssv6510 | Remapped | Perfect | NC_000012.12:g.(58 323286_?)_(?_58339 562)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,323,286 | 58,339,562 |
| nssv5427 | Remapped | Perfect | NC_000012.12:g.(58 324066_?)_(?_58339 400)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,324,066 | 58,339,400 |
| nssv10905 | Remapped | Perfect | NC_000012.12:g.(58 326893_?)_(?_58352 528)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,326,893 | 58,352,528 |
| nssv9839 | Remapped | Perfect | NC_000012.11:g.(58 698792_?)_(?_58743 178)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,698,792 | 58,743,178 |
| nssv10868 | Remapped | Perfect | NC_000012.11:g.(58 700217_?)_(?_58734 682)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,700,217 | 58,734,682 |
| nssv1088 | Remapped | Perfect | NC_000012.11:g.(58 716175_?)_(?_58744 899)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,716,175 | 58,744,899 |
| nssv9948 | Remapped | Perfect | NC_000012.11:g.(58 716804_?)_(?_58759 096)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,716,804 | 58,759,096 |
| nssv6510 | Remapped | Perfect | NC_000012.11:g.(58 717069_?)_(?_58733 345)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,717,069 | 58,733,345 |
| nssv5427 | Remapped | Perfect | NC_000012.11:g.(58 717849_?)_(?_58733 183)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,717,849 | 58,733,183 |
| nssv10905 | Remapped | Perfect | NC_000012.11:g.(58 720676_?)_(?_58746 311)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,720,676 | 58,746,311 |
| nssv9839 | Submitted genomic | NC_000012.9:g.(569 85059_?)_(?_570294 45)del15702 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 56,985,059 | 57,029,445 | ||
| nssv10868 | Submitted genomic | NC_000012.9:g.(569 86484_?)_(?_570209 49)del8664 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 56,986,484 | 57,020,949 | ||
| nssv1088 | Submitted genomic | NC_000012.9:g.(570 02442_?)_(?_570311 66)del8544 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 57,002,442 | 57,031,166 | ||
| nssv9948 | Submitted genomic | NC_000012.9:g.(570 03071_?)_(?_570453 63)del6682 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 57,003,071 | 57,045,363 | ||
| nssv6510 | Submitted genomic | NC_000012.9:g.(570 03336_?)_(?_570196 12)del9236 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 57,003,336 | 57,019,612 | ||
| nssv5427 | Submitted genomic | NC_000012.9:g.(570 04116_?)_(?_570194 50)del8341 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 57,004,116 | 57,019,450 | ||
| nssv10905 | Submitted genomic | NC_000012.9:g.(570 06943_?)_(?_570325 78)del13980 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 57,006,943 | 57,032,578 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv10868 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
| nssv10905 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
| nssv10905 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |