A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430176



Internal ID208993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112814495..112814661hg38UCSC Ensembl
chrX:112057723..112057889hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742038
Samples
Known GenesAMOT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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