A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582476



Internal ID16369885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91907605..91947009hg38UCSC Ensembl
Innerchr2:92095631..92135035hg19UCSC Ensembl
Innerchr2:91459358..91498762hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3839405
hg1939405
hg1839405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914063
Samples
Known GenesACTR3BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582476
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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