A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582012



Internal ID16369421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54231956..54275775hg38UCSC Ensembl
Innerchr2:54459093..54502912hg19UCSC Ensembl
Innerchr2:54312597..54356416hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3843820
hg1943820
hg1843820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150726
SamplesNINDS_102
Known GenesACYP2, TSPYL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582012
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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