A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581717



Internal ID16022440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45529499..45532808hg38UCSC Ensembl
Innerchr2:45756638..45759947hg19UCSC Ensembl
Innerchr2:45610142..45613451hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383310
hg193310
hg183310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908053
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581717
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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