A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582532



Internal ID16023255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100412540..100915481hg38UCSC Ensembl
Innerchr2:101029002..101531943hg19UCSC Ensembl
Innerchr2:100395434..100898375hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38502942
hg19502942
hg18502942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914554
Samples
Known GenesCHST10, NMS, NPAS2, PDCL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582532
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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