A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954054



Internal ID17302928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48371758..48376657hg38UCSC Ensembl
Outerchr20:47000501..47005400hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999990
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954054
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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