A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3550043



Internal ID18501638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135050..46170462hg38UCSC Ensembl
Innerchr17:44212416..44247828hg19UCSC Ensembl
Innerchr17:41568193..41603605hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3835413
hg1935413
hg1835413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056612
Supporting Variants
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3550043
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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