A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400507



Internal ID22458377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:51039438..51042150hg38UCSC Ensembl
chr2:51266576..51269288hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884594
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400507
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