A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3713719



Internal ID19012000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20327352..20625059hg38UCSC Ensembl
Innerchr15:20532605..20830362hg19UCSC Ensembl
Innerchr15:18792619..19090376hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38297708
hg19297758
hg18297758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047598
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)nssv3713719
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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