A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582982



Internal ID18534577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159012247..160175703hg38UCSC Ensembl
Innerchr2:159868759..161032214hg19UCSC Ensembl
Innerchr2:159577005..160740460hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381163457
hg191163456
hg181163456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010774
Supporting Variants
Samples
Known GenesBAZ2B, CD302, ITGB6, LY75, LY75-CD302, MARCH7, MIR6888, PLA2R1, TANC1, WDSUB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582982
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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