A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469304



Internal ID247093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154744630..154744938hg38UCSC Ensembl
chr5:154124190..154124498hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977307
Samples
Known GenesLARP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469304
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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