A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064131



Internal ID18806662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46203331hg38UCSC Ensembl
Innerchr17:44213204..44280697hg19UCSC Ensembl
Innerchr17:41568981..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3867494
hg1967494
hg1867494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3216n100
Supporting Variantsnssv3723859, nssv3723860
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064131
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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