A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3493344



Internal ID19080985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119572109..119606894hg38UCSC Ensembl
Innerchr1:120114732..120149517hg19UCSC Ensembl
Innerchr1:119916255..119951040hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3834786
hg1934786
hg1834786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997352
Supporting Variants
Samples
Known GenesHSD3BP4, LINC00622
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3493344
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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