A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067012



Internal ID18809543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46191927..46331296hg38UCSC Ensembl
Innerchr17:44269293..44408662hg19UCSC Ensembl
Innerchr17:41625070..41764423hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38139370
hg19139370
hg18139354
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3242n100
Supporting Variantsnssv3725370, nssv3557414
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, 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)nsv1067012
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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