A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3540047



Internal ID18838328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20638246hg38UCSC Ensembl
Innerchr15:20284054..20843550hg19UCSC Ensembl
Innerchr15:18544068..19103564hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38559446
hg19559497
hg18559497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040500
Supporting Variants
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3540047
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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