A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032972



Internal ID19122194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176172327..176319963hg38UCSC Ensembl
Innerchr5:175599330..175746966hg19UCSC Ensembl
Innerchr5:175531936..175679572hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38147637
hg19147637
hg18147637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5843n100
Supporting Variantsnssv3649281
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)nsv1032972
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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