A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581583



Internal ID18879864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43872294..44080311hg38UCSC Ensembl
Innerchr2:44099433..44307450hg19UCSC Ensembl
Innerchr2:43952937..44160954hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38208018
hg19208018
hg18208018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008510
Supporting Variants
Samples
Known GenesABCG8, LRPPRC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581583
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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