A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582707



Internal ID16370116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112288077..112295484hg38UCSC Ensembl
Innerchr2:113045654..113053061hg19UCSC Ensembl
Innerchr2:112762125..112769532hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg387408
hg197408
hg187408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916093
Samples
Known GenesZC3H6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582707
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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