A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882577



Internal ID22657554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49809372..49817123hg38UCSC Ensembl
chr2:50036510..50044261hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg387752
hg197752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394875
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882577
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer