A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968321



Internal ID46202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66000170..66000253hg38UCSC Ensembl
chr5:65295998..65296081hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470588
Supporting Variants
Samples
Known GenesERBB2IP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968321
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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