A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968482



Internal ID46302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77679839..77679890hg38UCSC Ensembl
chr5:76975664..76975715hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559800
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968482
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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