A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006547



Internal ID19095764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151464..260948hg38UCSC Ensembl
Innerchr2:151464..260948hg19UCSC Ensembl
Innerchr2:141464..250948hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38109485
hg19109485
hg18109485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571258
Samples
Known GenesSH3YL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006547
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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