A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055456



Internal ID18797987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46169258hg38UCSC Ensembl
Innerchr17:44224533..44246624hg19UCSC Ensembl
Innerchr17:41580310..41602401hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3822092
hg1922092
hg1822092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3228n100
Supporting Variantsnssv3556811
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)nsv1055456
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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