A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582177



Internal ID16369586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69897960..69906565hg38UCSC Ensembl
Innerchr2:70125092..70133697hg19UCSC Ensembl
Innerchr2:69978596..69987201hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg388606
hg198606
hg188606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912063, nssv912062
Samples
Known GenesSNRNP27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582177
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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