A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3537247



Internal ID18835528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20649173hg38UCSC Ensembl
Innerchr15:20585976..20854501hg19UCSC Ensembl
Innerchr15:18845990..19114515hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38268451
hg19268526
hg18268526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046484
Supporting Variants
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)nssv3537247
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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