A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484595



Internal ID262006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135149106..135156386hg38UCSC Ensembl
chr7:134833858..134841138hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg387281
hg197281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003674
Samples
Known GenesTMEM140
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484595
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