A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956438



Internal ID18860099
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 StatusS
Merged Variantsnsv1127840
Supporting Variants
SamplesKWS1
Known GenesEYA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956438
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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