A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056213



Internal ID19145432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19596411..19635433hg38UCSC Ensembl
Innerchr17:19499724..19538746hg19UCSC Ensembl
Innerchr17:19440316..19479338hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3839023
hg1939023
hg1839023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3117n100
Supporting Variantsnssv3720006, nssv3560869, nssv3720009, nssv3560864, nssv3560856, nssv3560850, nssv3560861, nssv3560847, nssv3560876, nssv3560868, nssv3560860, nssv3560858, nssv3560867, nssv3560877, nssv3560862, nssv3560851, nssv3720008, nssv3720007, nssv3560870, nssv3560857, nssv3560878, nssv3560854, nssv3560845, nssv3560866, nssv3560865, nssv3560872, nssv3560874, nssv3560846, nssv3560848, nssv3560852, nssv3560849, nssv3560863, nssv3560873, nssv3560859, nssv3560871, nssv3560853, nssv3560855, nssv3560875
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056213
Frequency
Sample Size11257
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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