A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3571248



Internal ID18869529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73399..246301hg38UCSC Ensembl
Innerchr2:73399..246301hg19UCSC Ensembl
Innerchr2:63399..236301hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38172903
hg19172903
hg18172903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014980
Supporting Variants
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)nssv3571248
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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