A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545730



Internal ID16333139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19910238..19924306hg38UCSC Ensembl
Innerchr1:20236731..20250799hg19UCSC Ensembl
Innerchr1:20109318..20123386hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3814069
hg1914069
hg1814069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173791
SamplesNINDS_168
Known GenesOTUD3, PLA2G2E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545730
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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