A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414830



Internal ID194098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120353200..120397000hg38UCSC Ensembl
chrX:119487055..119530855hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3843801
hg1943801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737375
Samples
Known GenesATP1B4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414830
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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