A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448718



Internal ID226980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124202831..124210137hg38UCSC Ensembl
chr3:123921678..123928984hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg387307
hg197307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938114
Samples
Known GenesKALRN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448718
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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