A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443484



Internal ID221880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119895931..119935718hg38UCSC Ensembl
chr2:120653507..120693294hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3839788
hg1939788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917620
Samples
Known GenesPTPN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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