A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024078



Internal ID18766611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12412191hg38UCSC Ensembl
Innerchr8:12162727..12269700hg19UCSC Ensembl
Innerchr8:12207096..12314071hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38106974
hg19106974
hg18106976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7031n100
Supporting Variantsnssv3754358
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024078
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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