A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548965



Internal ID322669
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 StatusM
Merged Variants
Supporting Variantsnssv16955294
Samples
Known GenesHSPA4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548965
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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