A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005791



Internal ID18748322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70093477..70216975hg38UCSC Ensembl
Innerchr4:70959194..71082692hg19UCSC Ensembl
Innerchr4:70993783..71117281hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38123499
hg19123499
hg18123499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5319n100
Supporting Variantsnssv3633069
Samples
Known GenesC4orf40, CSN1S2BP, ODAM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005791
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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