A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028347



Internal ID18770878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23407127..23686843hg38UCSC Ensembl
Innerchr5:23407236..23686952hg19UCSC Ensembl
Innerchr5:23442993..23722709hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg38279717
hg19279717
hg18279717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3635944
Samples
Known GenesPRDM9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028347
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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