A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000455



Internal ID19089672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47975022..48135499hg38UCSC Ensembl
Innerchr2:48202161..48362638hg19UCSC Ensembl
Innerchr2:48055665..48216142hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38160478
hg19160478
hg18160478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726004
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000455
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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