A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582123



Internal ID16022846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61719360..62324337hg38UCSC Ensembl
Innerchr2:61946495..62551472hg19UCSC Ensembl
Innerchr2:61799999..62404976hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38604978
hg19604978
hg18604978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv911336
Samples
Known GenesB3GNT2, CCT4, COMMD1, FAM161A, MIR5192
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582123
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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