A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023314



Internal ID19112531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175960531..176223469hg38UCSC Ensembl
Innerchr5:175387534..175650472hg19UCSC Ensembl
Innerchr5:175320140..175583078hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38262939
hg19262939
hg18262939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5833n100
Supporting Variantsnssv3746675, nssv3746676, nssv3649165, nssv3649164, nssv3649168, nssv3649166, nssv3649163, nssv3649169, nssv3746674, nssv3649167
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, THOC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023314
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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