A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584065



Internal ID16024788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190779811..191011175hg38UCSC Ensembl
Innerchr2:191644537..191875901hg19UCSC Ensembl
Innerchr2:191352782..191584146hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38231365
hg19231365
hg18231365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv928432
Samples
Known GenesGLS, STAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584065
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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