A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582703



Internal ID16023426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112162642..112342437hg38UCSC Ensembl
Innerchr2:112920219..113100014hg19UCSC Ensembl
Innerchr2:112636690..112816485hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38179796
hg19179796
hg18179796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916087
Samples
Known GenesFBLN7, ZC3H6, ZC3H8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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