A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948468



Internal ID22723947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53168717..53168816hg38UCSC Ensembl
chr20:51785256..51785355hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404070
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948468
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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