A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147353



Internal ID346534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20713735..20719663hg38UCSC Ensembl
chr4:20715358..20721286hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg385929
hg195929
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16946239
Samples
Known GenesPACRGL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147353
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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