A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16287704



Internal ID20496922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142677045..142677384hg38UCSC Ensembl
chr2:143434614..143434953hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4738599
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16287704
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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