A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953308



Internal ID16955495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63650148..63831847hg38UCSC Ensembl
Outerchr20:62281501..62463200hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38181700
hg19181700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000019
SamplesBILGI_BIOE
Known GenesARFRP1, LIME1, RTEL1, RTEL1-TNFRSF6B, SLC2A4RG, STMN3, TNFRSF6B, ZBTB46, ZGPAT
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953308
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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