A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055573



Internal ID19144792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136788..46190497hg38UCSC Ensembl
Innerchr17:44214154..44267863hg19UCSC Ensembl
Innerchr17:41569931..41623640hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3853710
hg1953710
hg1853710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3217n100
Supporting Variantsnssv3550201
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)nsv1055573
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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