A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545363



Internal ID15986086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9435512..9617795hg38UCSC Ensembl
Innerchr1:9495571..9677853hg19UCSC Ensembl
Innerchr1:9418158..9600440hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38182284
hg19182283
hg18182283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709671
Samples
Known GenesSLC25A33, TMEM201
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545363
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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