A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967424



Internal ID45587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69533807..69684903hg38UCSC Ensembl
chr5:68829634..68980730hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38151097
hg19151097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140895
Supporting Variants
Samples
Known GenesGTF2H2C, GTF2H2D, GUSBP3, LOC100272216, OCLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000539


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