A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015772



Internal ID18758306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7941224..8120653hg38UCSC Ensembl
Innerchr8:7798746..7978175hg19UCSC Ensembl
Innerchr8:7836156..8015585hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38179430
hg19179430
hg18179430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6976n100
Supporting Variantsnssv3681264
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)nsv1015772
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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