A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033511



Internal ID18776044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19893788..20767580hg38UCSC Ensembl
Innerchr8:19751299..20625091hg19UCSC Ensembl
Innerchr8:19795579..20669371hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38873793
hg19873793
hg18873793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685330
Samples
Known GenesATP6V1B2, LPL, LZTS1, LZTS1-AS1, SLC18A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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