A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435268



Internal ID213920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119916525..119917571hg38UCSC Ensembl
chr2:120674101..120675147hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917622
Samples
Known GenesPTPN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435268
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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