A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964011



Internal ID43316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30478183..30483516hg38UCSC Ensembl
chr5:30478290..30483623hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385334
hg195334
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563641
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964011
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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