A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396230



Internal ID22454100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37031889..37031948hg38UCSC Ensembl
chr2:37259032..37259091hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874821
Supporting Variants
Samples
Known GenesHEATR5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396230
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