A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549662



Internal ID323295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:82998856..82998896hg38UCSC Ensembl
chrX:82253864..82253904hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737055
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549662
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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