A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030300



Internal ID18772831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7888834..7969388hg38UCSC Ensembl
Innerchr8:7746356..7826910hg19UCSC Ensembl
Innerchr8:7783766..7864320hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880555
hg1980555
hg1880555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6977n100
Supporting Variantsnssv3681001, nssv3681000
Samples
Known GenesDEFB4A, FAM66E, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030300
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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