A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030754



Internal ID18773285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7534748hg38UCSC Ensembl
Innerchr8:7297328..7392270hg19UCSC Ensembl
Innerchr8:7284738..7379680hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894943
hg1994943
hg1894943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6942n100
Supporting Variantsnssv3680248
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030754
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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