A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127840



Internal ID18912160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47019987..47020040hg38UCSC Ensembl
Outerchr20:45648626..45648679hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956438
SamplesKWS1
Known GenesEYA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127840
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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