A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955141



Internal ID16957328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58692145..58724044hg38UCSC Ensembl
Outerchr20:57267201..57299100hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3831900
hg1931900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000004
SamplesBILGI_BIOE
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955141
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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