A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031669



Internal ID19120891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176131539..176269841hg38UCSC Ensembl
Innerchr5:175558542..175696844hg19UCSC Ensembl
Innerchr5:175491148..175629450hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38138303
hg19138303
hg18138303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5841n100
Supporting Variantsnssv3649261
Samples
Known GenesLOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031669
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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