A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112793



Internal ID18908496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62142744..62144244hg38UCSC Ensembl
Outerchr20:60717800..60719300hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967293
SamplesKWS2
Known GenesPSMA7, SS18L1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112793
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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