A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997281



Internal ID19156819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53286258..53326246hg38UCSC Ensembl
Innerchr2:53513396..53553384hg19UCSC Ensembl
Innerchr2:53366900..53406888hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3839989
hg1939989
hg1839989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576622
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)nsv997281
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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