A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016039



Internal ID18758574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7896694..7969388hg38UCSC Ensembl
Innerchr8:7754216..7826910hg19UCSC Ensembl
Innerchr8:7791626..7864320hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3872695
hg1972695
hg1872695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6972n100
Supporting Variantsnssv3681179
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)nsv1016039
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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