A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430628



Internal ID209432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115030186..115031457hg38UCSC Ensembl
chrX:114264749..114266020hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381272
hg191272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742120
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430628
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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