A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581637



Internal ID18879918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48185995..48266043hg38UCSC Ensembl
Innerchr2:48413134..48493182hg19UCSC Ensembl
Innerchr2:48266638..48346686hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3880049
hg1980049
hg1880049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005241
Supporting Variants
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)nssv3581637
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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