A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581738



Internal ID16022461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45531809..45533270hg38UCSC Ensembl
Innerchr2:45758948..45760409hg19UCSC Ensembl
Innerchr2:45612452..45613913hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381462
hg191462
hg181462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6845n54
Supporting Variantsnssv908096
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581738
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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