A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554735



Internal ID327912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147529345..147529656hg38UCSC Ensembl
chr4:148450497..148450808hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956008
Samples
Known GenesEDNRA
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554735
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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