A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020728



Internal ID18763262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7974520hg38UCSC Ensembl
Innerchr8:7752036..7832042hg19UCSC Ensembl
Innerchr8:7789446..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880007
hg1980007
hg1880007
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3681160, nssv3753784
Samples
Known GenesDEFB4A, FAM66E, 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)nsv1020728
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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