A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753805



Internal ID18705400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7918604..8104925hg38UCSC Ensembl
Innerchr8:7776126..7962447hg19UCSC Ensembl
Innerchr8:7813536..7999857hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38186322
hg19186322
hg18186322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030825
Supporting Variants
Samples
Known GenesDEFB109P1B, FAM66E, MIR548I3, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3753805
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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