A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049541



Internal ID19138760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20422227hg38UCSC Ensembl
Innerchr15:20284054..20627480hg19UCSC Ensembl
Innerchr15:18544068..18887494hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38343427
hg19343427
hg18343427
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2198n100
Supporting Variantsnssv3540036, nssv3540037
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049541
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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