A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065739



Internal ID18808270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46494937hg38UCSC Ensembl
Innerchr17:44219555..44572303hg19UCSC Ensembl
Innerchr17:41575332..41927619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38352749
hg19352749
hg18352288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3189n100
Supporting Variantsnssv3556724, nssv3556725
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065739
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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