A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062969



Internal ID19152188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46186703hg38UCSC Ensembl
Innerchr17:44214888..44264069hg19UCSC Ensembl
Innerchr17:41570665..41619846hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3849182
hg1949182
hg1849182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3217n100
Supporting Variantsnssv3556409, nssv3556408, nssv3556410
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)nsv1062969
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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