A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582253



Internal ID16369662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77099706..77147654hg38UCSC Ensembl
Innerchr2:77326832..77374780hg19UCSC Ensembl
Innerchr2:77180340..77228288hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3847949
hg1947949
hg1847949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150235
Samples1787431198_A
Known GenesLRRTM4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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