A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606726



Internal ID16394135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43585908..43592243hg38UCSC Ensembl
Innerchr7:43625507..43631842hg19UCSC Ensembl
Innerchr7:43592032..43598367hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386336
hg196336
hg186336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11294n54
Supporting Variantsnssv1083150, nssv1083117, nssv1083112, nssv1083097, nssv1083139, nssv1083110, nssv1083089, nssv1083158, nssv1083161, nssv1083162, nssv1083172, nssv1083095, nssv1083088, nssv1083145, nssv1083132, nssv1083151, nssv1083115, nssv1083143, nssv1083105, nssv1083166, nssv1083168, nssv1083171, nssv1083106, nssv1083100, nssv1083144, nssv1083107, nssv1083109, nssv1083113, nssv1083092, nssv1083169, nssv1083155, nssv1083138, nssv1083091, nssv1083142, nssv1083119, nssv1083116, nssv1083128, nssv1083103, nssv1083136, nssv1083135, nssv1083170, nssv1083099, nssv1083094, nssv1083149, nssv1083137, nssv1083152, nssv1083148, nssv1083156, nssv1083124, nssv1083126, nssv1083120, nssv1083130, nssv1083146, nssv1083129, nssv1083123, nssv1083165, nssv1083093, nssv1083160, nssv1083164, nssv1083134, nssv1083090, nssv1083101, nssv1083122, nssv1083140, nssv1083096, nssv1083125, nssv1083153, nssv1083154, nssv1083141, nssv1083108, nssv1083133, nssv1083147, nssv1083111, nssv1083163, nssv1083098, nssv1083157, nssv1083118, nssv1083167, nssv1083121, nssv1083102, nssv1083159, nssv1083131, nssv1083104, nssv1083127, nssv1083114
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606726
Frequency
Sample Size17421
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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