A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955294



Internal ID37507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127782364..127782386hg38UCSC Ensembl
chr4:128703519..128703541hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548965
Supporting Variants
Samples
Known GenesHSPA4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004527


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