A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575663



Internal ID16016386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54963394..55083585hg38UCSC Ensembl
Innerchr17:53040755..53160946hg19UCSC Ensembl
Innerchr17:50395754..50515945hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38120192
hg19120192
hg18120192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5708n54
Supporting Variantsnssv874074
Samples
Known GenesCOX11, STXBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575663
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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