A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436752



Internal ID215360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126552187..126557965hg38UCSC Ensembl
chr2:127309764..127315542hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385779
hg195779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919491
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436752
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