A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439481



Internal ID218017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1002520..1005125hg38UCSC Ensembl
chr4:996308..998913hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382606
hg192606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943971
Samples
Known GenesIDUA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439481
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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