A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581792



Internal ID16369201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:49060644..49094025hg38UCSC Ensembl
Innerchr2:49287783..49321164hg19UCSC Ensembl
Innerchr2:49141287..49174668hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3833382
hg1933382
hg1833382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908239
Samples
Known GenesFSHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581792
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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