A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581290



Internal ID16022013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999538..33001172hg38UCSC Ensembl
Innerchr2:33224605..33226239hg19UCSC Ensembl
Innerchr2:33078109..33079743hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381635
hg191635
hg181635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6751n54
Supporting Variantsnssv904651, nssv904648, nssv904650, nssv904649, nssv904647
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581290
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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