A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3571284



Internal ID18869565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1741554..1827790hg38UCSC Ensembl
Innerchr2:1745326..1831562hg19UCSC Ensembl
Innerchr2:1724333..1810569hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3886237
hg1986237
hg1886237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999928
Supporting Variants
Samples
Known GenesMYT1L, PXDN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3571284
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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