A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582798



Internal ID16023521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120552693..121587495hg38UCSC Ensembl
Innerchr2:121310269..122345071hg19UCSC Ensembl
Innerchr2:121026739..122061541hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381034803
hg191034803
hg181034803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916445
Samples
Known GenesCLASP1, GLI2, RNU4ATAC, TFCP2L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582798
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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