A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003063



Internal ID19092280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4194781..4231248hg38UCSC Ensembl
Innerchr2:4242371..4278838hg19UCSC Ensembl
Innerchr2:4220246..4256713hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3836468
hg1936468
hg1836468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576919
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)nsv1003063
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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