A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057338



Internal ID18799869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113306..46190142hg38UCSC Ensembl
Innerchr17:44190672..44267508hg19UCSC Ensembl
Innerchr17:41546454..41623285hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3876837
hg1976837
hg1876832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3199n100
Supporting Variantsnssv3548625, nssv3548624
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)nsv1057338
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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