A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049193



Internal ID19138412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19978836..20373156hg38UCSC Ensembl
Innerchr15:20184089..20578409hg19UCSC Ensembl
Innerchr15:18444103..18838423hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38394321
hg19394321
hg18394321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2176n100
Supporting Variantsnssv3534445
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049193
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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