A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569375



Internal ID16356784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49252995..49265736hg38UCSC Ensembl
Innerchr15:49545192..49557933hg19UCSC Ensembl
Innerchr15:47332484..47345225hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3812742
hg1912742
hg1812742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4521n54
Supporting Variantsnssv842930, nssv842929
Samples
Known GenesGALK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569375
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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