A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964204



Internal ID43443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34558065..35071637hg38UCSC Ensembl
chr5:34558170..35071739hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38513573
hg19513570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472652
Supporting Variants
Samples
Known GenesAGXT2, BRIX1, DNAJC21, PRLR, RAD1, RAI14, TTC23L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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