A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065913



Internal ID18808444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085720..46600614hg38UCSC Ensembl
Innerchr17:44163086..44677980hg19UCSC Ensembl
Innerchr17:41518904..42033296hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38514895
hg19514895
hg18514393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3546112, nssv3546111
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065913
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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