A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6099393



Internal ID22008626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49822804..49822804hg38UCSC Ensembl
chr12:50216587..50216587hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17602841
Samples
Known GenesNCKAP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6099393
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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