A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534213



Internal ID310050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17615268..17615276hg38UCSC Ensembl
chrX:17633388..17633396hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739475
Samples
Known GenesNHS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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