A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000240



Internal ID18846053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47055183..47061921hg38UCSC Ensembl
Outerchr20:45683822..45690560hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg386739
hg196739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147471
Supporting Variants
SamplesKWB1
Known GenesEYA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000240
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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