A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429683



Internal ID208524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130093183..130094255hg38UCSC Ensembl
chrX:129227158..129228230hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737563
Samples
Known GenesELF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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