A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043436



Internal ID19132655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20649173hg38UCSC Ensembl
Innerchr15:20216943..20854501hg19UCSC Ensembl
Innerchr15:18476957..19114515hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38637484
hg19637559
hg18637559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2187n100
Supporting Variantsnssv3536962
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)nsv1043436
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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