A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042692



Internal ID18785223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31678835..31773086hg38UCSC Ensembl
Innerchr13:32252972..32347223hg19UCSC Ensembl
Innerchr13:31150972..31245223hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3894252
hg1994252
hg1894252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1625n100
Supporting Variantsnssv3523231
Samples
Known GenesRXFP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042692
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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