A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429970



Internal ID208799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48765128..48768357hg38UCSC Ensembl
chrX:48623532..48626774hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383230
hg193243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736873
Samples
Known GenesGLOD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429970
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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