A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439081



Internal ID217627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:87622619..87719619hg38UCSC Ensembl
chr2:87922138..88019138hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3897001
hg1997001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916721
Samples
Known GenesMIR4435-1, MIR4435-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439081
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