A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582704



Internal ID16370113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112288077..112290575hg38UCSC Ensembl
Innerchr2:113045654..113048152hg19UCSC Ensembl
Innerchr2:112762125..112764623hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7009n54
Supporting Variantsnssv916088
Samples
Known GenesZC3H6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582704
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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