A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062382



Internal ID18804913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46199005..46364104hg38UCSC Ensembl
Innerchr17:44276371..44441470hg19UCSC Ensembl
Innerchr17:41632148..41797212hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38165100
hg19165100
hg18165065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3239n100
Supporting Variantsnssv3725384
Samples
Known GenesARL17A, ARL17B, KANSL1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062382
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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