A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569500



Internal ID16356909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:54199310..54204086hg38UCSC Ensembl
Innerchr15:54491507..54496283hg19UCSC Ensembl
Innerchr15:52278799..52283575hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg384777
hg194777
hg184777
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4540n54
Supporting Variantsnssv843287, nssv843289, nssv843288
Samples
Known GenesUNC13C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569500
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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