A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580455



Internal ID16367864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:607107..1124880hg38UCSC Ensembl
Innerchr2:607107..1120566hg19UCSC Ensembl
Innerchr2:597107..1110566hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38517774
hg19513460
hg18513460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150386
SamplesNINDS_109
Known GenesLINC01115, SNTG2, TMEM18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580455
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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