A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524700



Internal ID15451993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79085706..79100095hg38UCSC Ensembl
Innerchr17:77081788..77096177hg19UCSC Ensembl
Innerchr17:74593383..74607772hg18UCSC Ensembl
Innerchr17:74593383..74607772hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3814390
hg1914390
hg1814390
hg1714390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700680
Samples
Known GenesENGASE, RBFOX3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524700
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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