A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496102



Internal ID273188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51051684..51052713hg38UCSC Ensembl
chr12:51445467..51446496hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058550
Samples
Known GenesLETMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496102
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