A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977122



Internal ID52139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170955518..170955548hg38UCSC Ensembl
chr5:170382522..170382552hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541082
Supporting Variants
Samples
Known GenesRANBP17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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