A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023045



Internal ID18765578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27791529..27831551hg38UCSC Ensembl
Innerchr8:27649046..27689068hg19UCSC Ensembl
Innerchr8:27704965..27744987hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3840023
hg1940023
hg1840023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7153n100
Supporting Variantsnssv3685523
Samples
Known GenesESCO2, PBK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023045
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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