A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524458



Internal ID15451751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12738015..12744091hg38UCSC Ensembl
Innerchr17:12641332..12647408hg19UCSC Ensembl
Innerchr17:12582057..12588133hg18UCSC Ensembl
Innerchr17:12582057..12588133hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386077
hg196077
hg186077
hg176077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700392
Samples
Known GenesMYOCD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524458
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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