A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031928



Internal ID18774462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180688817..180789254hg38UCSC Ensembl
Innerchr5:180115817..180216254hg19UCSC Ensembl
Innerchr5:180048423..180148860hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38100438
hg19100438
hg18100438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5849n100
Supporting Variantsnssv3649332, nssv3746696, nssv3649328, nssv3649322, nssv3746694, nssv3649327, nssv3649326, nssv3746695, nssv3649330, nssv3649331, nssv3649324, nssv3746693, nssv3649325, nssv3649329, nssv3649333, nssv3649323
Samples
Known GenesOR2Y1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031928
Frequency
Sample Size29084
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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