A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543228



Internal ID317536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35050519..35050535hg38UCSC Ensembl
chr6:35018296..35018312hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982083
Samples
Known GenesANKS1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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