A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000003



Internal ID16946269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57524045..57527444hg38UCSC Ensembl
Outerchr20:56099101..56102500hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955140
Supporting Variants
SamplesBILGI_BIOE
Known GenesCTCFL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000003
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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