A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948055



Internal ID32730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37857442..37857535hg38UCSC Ensembl
chr4:37859063..37859156hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463549
Supporting Variants
Samples
Known GenesPGM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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