A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456624



Internal ID234685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88077673..88081132hg38UCSC Ensembl
chr4:88998825..89002284hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383460
hg193460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951547
Samples
Known GenesPKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456624
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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