A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048375



Internal ID19137594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20359322..20647773hg38UCSC Ensembl
Innerchr15:20564575..20853080hg19UCSC Ensembl
Innerchr15:18824589..19113094hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38288452
hg19288506
hg18288506
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2231n100
Supporting Variantsnssv3537554, nssv3713783
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)nsv1048375
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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