A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581776



Internal ID16022499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48536243..48685880hg38UCSC Ensembl
Innerchr2:48763382..48913019hg19UCSC Ensembl
Innerchr2:48616886..48766523hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38149638
hg19149638
hg18149638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908150
Samples
Known GenesGTF2A1L, STON1, STON1-GTF2A1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581776
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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