A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436414



Internal ID215031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124250785..124252351hg38UCSC Ensembl
chr3:123969632..123971198hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938116
Samples
Known GenesKALRN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436414
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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