A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055427



Internal ID18797958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46103588..46351303hg38UCSC Ensembl
Innerchr17:44180954..44428669hg19UCSC Ensembl
Innerchr17:41536766..41784425hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38247716
hg19247716
hg18247660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3548582, nssv3548581, nssv3720596, nssv3548580
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)nsv1055427
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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