A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939549



Internal ID27084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127344313..127344313hg38UCSC Ensembl
chr3:127063156..127063156hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538608
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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