A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736090



Internal ID159756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3029488..3039488hg38UCSC Ensembl
chrX:2947529..2957529hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139048
Supporting Variants
Samples
Known GenesARSH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736090
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000209336


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