A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001645



Internal ID18847028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58475643..58478044hg38UCSC Ensembl
Outerchr20:57050699..57053100hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148136
Supporting Variants
SamplesKWB1
Known GenesAPCDD1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001645
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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