A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891133



Internal ID22666167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237724915..237730649hg38UCSC Ensembl
chr2:238633558..238639292hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385735
hg195735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391303
Samples
Known GenesLRRFIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891133
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