A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043145



Internal ID19132364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20538504hg38UCSC Ensembl
Innerchr15:20585976..20743782hg19UCSC Ensembl
Innerchr15:18845990..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38157782
hg19157807
hg18157807
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2243n100
Supporting Variantsnssv3537217, nssv3714624, nssv3714623, nssv3537218, nssv3537211, nssv3537216, nssv3537212, nssv3537214, nssv3537215, nssv3537213
Samples
Known GenesGOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043145
Frequency
Sample Size11257
Observed Gain4
Observed Loss6
Observed Complex0
Frequencyn/a


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