A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582199



Internal ID16369608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71515762..71551985hg38UCSC Ensembl
Innerchr2:71742892..71779115hg19UCSC Ensembl
Innerchr2:71596400..71632623hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3836224
hg1936224
hg1836224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150729
SamplesHGDP00935
Known GenesDYSF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582199
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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