A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967425



Internal ID45588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69534000..69643807hg38UCSC Ensembl
chr5:68829827..68939634hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38109808
hg19109808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140997
Supporting Variants
Samples
Known GenesGTF2H2C, GTF2H2D, GUSBP3, LOC100272216, OCLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000175


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