A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020614



Internal ID19109833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99034464..99581864hg38UCSC Ensembl
Innerchr8:100046692..100594092hg19UCSC Ensembl
Innerchr8:100115868..100663268hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38547401
hg19547401
hg18547401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689741
Samples
Known GenesMIR599, MIR875, VPS13B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020614
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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