A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059175



Internal ID18801706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113306..46190324hg38UCSC Ensembl
Innerchr17:44190672..44267690hg19UCSC Ensembl
Innerchr17:41546454..41623467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3877019
hg1977019
hg1877014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3199n100
Supporting Variantsnssv3548627, nssv3548626
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)nsv1059175
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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