A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516133



Internal ID15443426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75420733..75763223hg38UCSC Ensembl
Innerchr17:73416814..73759304hg19UCSC Ensembl
Innerchr17:70928409..71270899hg18UCSC Ensembl
Innerchr17:70928409..71270899hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38342491
hg19342491
hg18342491
hg17342491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657812, nssv682093, nssv656029, nssv687740, nssv654997, nssv670959, nssv685418, nssv666418, nssv669670, nssv663338, nssv697018, nssv701945, nssv694444
Samples
Known GenesCASKIN2, GALK1, ITGB4, KIAA0195, LLGL2, MIR6785, MYO15B, RECQL5, SAP30BP, SMIM5, SMIM6, TSEN54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516133
Frequency
Sample Size2026
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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