A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468761



Internal ID246553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41547164..41547263hg38UCSC Ensembl
chr4:41549181..41549280hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949570
Samples
Known GenesLIMCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468761
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer