A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398813



Internal ID178208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2773783..2773834hg38UCSC Ensembl
chr6:2774017..2774068hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978442
Samples
Known GenesWRNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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