A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583040



Internal ID16023763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128273499..128444867hg38UCSC Ensembl
Innerchr2:129031073..129202441hg19UCSC Ensembl
Innerchr2:128747543..128918911hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38171369
hg19171369
hg18171369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv919667
Samples
Known GenesHS6ST1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583040
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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