A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040648



Internal ID19129867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20655101hg38UCSC Ensembl
Innerchr15:20585976..20860427hg19UCSC Ensembl
Innerchr15:18845990..19120441hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38274379
hg19274452
hg18274452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2244n100
Supporting Variantsnssv3537248
Samples
Known GenesGOLGA6L6, 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)nsv1040648
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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