A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3720520



Internal ID18672115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46136788hg38UCSC Ensembl
Innerchr17:44166270..44214154hg19UCSC Ensembl
Innerchr17:41522088..41569931hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3847885
hg1947885
hg1847844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060080
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)nssv3720520
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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