A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150728



Internal ID15881060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71480078..71489364hg38UCSC Ensembl
Innerchr2:71707208..71716494hg19UCSC Ensembl
Innerchr2:71560716..71570002hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg389287
hg199287
hg189287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582197
Supporting Variants
SamplesNINDS_65
Known GenesDYSF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150728
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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