A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028014



Internal ID18770545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7440024..7545918hg38UCSC Ensembl
Innerchr8:7297546..7403440hg19UCSC Ensembl
Innerchr8:7284956..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105895
hg19105895
hg18105895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6942n100
Supporting Variantsnssv3680343
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028014
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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