A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049374



Internal ID19138593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20689298hg38UCSC Ensembl
Innerchr15:20585976..20894627hg19UCSC Ensembl
Innerchr15:18845990..19178339hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38308576
hg19308652
hg18332350
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2231n100
Supporting Variantsnssv3537257, nssv3714644, nssv3714645, nssv3537259, nssv3537258
Samples
Known GenesGOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049374
Frequency
Sample Size11257
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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