A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551069



Internal ID324555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81750574..81750607hg38UCSC Ensembl
chr3:81799725..81799758hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936275
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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