A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556933



Internal ID16344342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:758819..764839hg38UCSC Ensembl
Innerchr12:867985..874005hg19UCSC Ensembl
Innerchr12:738246..744266hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386021
hg196021
hg186021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2259n54
Supporting Variantsnssv786158, nssv786180, nssv786208, nssv786207, nssv786204, nssv786157, nssv786189, nssv786206, nssv786195, nssv786177, nssv786165, nssv786179, nssv786183, nssv786185, nssv786156, nssv786210, nssv786164, nssv786209, nssv786166, nssv786175, nssv786161, nssv786200, nssv786194, nssv786198, nssv786211, nssv786199, nssv786159, nssv786201, nssv786192, nssv786187, nssv786186, nssv786196, nssv786160, nssv786154, nssv786178, nssv786173, nssv786182, nssv786170, nssv786172, nssv786162, nssv786181, nssv786203, nssv786197, nssv786155, nssv786190, nssv786176, nssv786167, nssv786205, nssv786171, nssv786163, nssv786184, nssv786193, nssv786202, nssv786169, nssv786168, nssv786188, nssv786191, nssv786174
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556933
Frequency
Sample Size17421
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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