A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420174



Internal ID199285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14703523..14703787hg38UCSC Ensembl
chrX:14721645..14721909hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739371
Samples
Known GenesGLRA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420174
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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