A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429002



Internal ID207860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71624870..71625887hg38UCSC Ensembl
chrX:70844720..70845737hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740655
Samples
Known GenesBCYRN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429002
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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