A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447085



Internal ID225398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85056964..85058113hg38UCSC Ensembl
chr2:85284087..85285236hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917316
Samples
Known GenesKCMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447085
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