A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053994



Internal ID18796525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34434959..34538175hg38UCSC Ensembl
Innerchr15:34727160..34830376hg19UCSC Ensembl
Innerchr15:32514452..32617668hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38103217
hg19103217
hg18103217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2557n100
Supporting Variantsnssv3550760, nssv3550761, nssv3550763, nssv3550764, nssv3550762, nssv3550765, nssv3550766
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053994
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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