A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540984



Internal ID315660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100550337..100550346hg38UCSC Ensembl
chr13:101202591..101202600hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692651
Samples
Known GenesGGACT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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