A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067539



Internal ID19156758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46203298..46286792hg38UCSC Ensembl
Innerchr17:44280664..44364158hg19UCSC Ensembl
Innerchr17:41636441..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3883495
hg1983495
hg1883495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3237n100
Supporting Variantsnssv3725390
Samples
Known GenesKANSL1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067539
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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