A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032700



Internal ID19121922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134807023..134868218hg38UCSC Ensembl
Innerchr5:134142713..134203908hg19UCSC Ensembl
Innerchr5:134170612..134231807hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3861196
hg1961196
hg1861196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5810n100
Supporting Variantsnssv3648122
Samples
Known GenesC5orf24, DDX46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032700
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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