A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022190



Internal ID18764724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7888834..7952372hg38UCSC Ensembl
Innerchr8:7746356..7809894hg19UCSC Ensembl
Innerchr8:7783766..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3863539
hg1963539
hg1863539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6972n100
Supporting Variantsnssv3753719
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022190
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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