A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1021231



Internal ID16315187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:468350..474141hg38UCSC Ensembl
Innerchr5:468465..474256hg19UCSC Ensembl
Innerchr5:521465..527256hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385792
hg195792
hg185792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv596673
Supporting Variants
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1021231
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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