A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989945



Internal ID18882106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2692554..2693254hg38UCSC Ensembl
Outerchr20:2673200..2673900hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136324
Supporting Variants
SamplesKWS2
Known GenesEBF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989945
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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