A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206555



Internal ID20773595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119757201..119762600hg38UCSC Ensembl
chr2:120514777..120520176hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339139
Supporting Variants
Samples
Known GenesPTPN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206555
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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