A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028465



Internal ID18770996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7886530..7919637hg38UCSC Ensembl
Innerchr8:7744052..7777159hg19UCSC Ensembl
Innerchr8:7781462..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3833108
hg1933108
hg1833108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6973n100
Supporting Variantsnssv3680970
Samples
Known GenesDEFB4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028465
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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