A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057513



Internal ID18800044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54829030..55002289hg38UCSC Ensembl
Innerchr17:52906391..53079650hg19UCSC Ensembl
Innerchr17:50261390..50434649hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38173260
hg19173260
hg18173260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3266n100
Supporting Variantsnssv3566108
Samples
Known GenesCOX11, STXBP4, TOM1L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057513
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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