A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025379



Internal ID18767911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180688817..180787853hg38UCSC Ensembl
Innerchr5:180115817..180214853hg19UCSC Ensembl
Innerchr5:180048423..180147459hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3899037
hg1999037
hg1899037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5849n100
Supporting Variantsnssv3746690, nssv3746691, nssv3746692
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)nsv1025379
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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