A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066945



Internal ID18809476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58650965..58704810hg38UCSC Ensembl
Innerchr17:56728326..56782171hg19UCSC Ensembl
Innerchr17:54083325..54137170hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3853846
hg1953846
hg1853846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567705
Samples
Known GenesRAD51C, TEX14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066945
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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