A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043750



Internal ID19132969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..20644294hg38UCSC Ensembl
Innerchr15:20395517..20849596hg19UCSC Ensembl
Innerchr15:18655531..19109610hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38454031
hg19454080
hg18454080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2208n100
Supporting Variantsnssv3538022, nssv3538021
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)nsv1043750
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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