A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461540



Internal ID239489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56598490..56602227hg38UCSC Ensembl
chr5:55894317..55898054hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383738
hg193738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965551
Samples
Known GenesLOC101928448
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461540
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