A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541749



Internal ID316309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869942..52869942hg38UCSC Ensembl
chr1:53335614..53335614hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903223
Samples
Known GenesZYG11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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