A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736883



Internal ID160549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48941507..48941601hg38UCSC Ensembl
chrX:48798764..48798858hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433590
Supporting Variants
Samples
Known GenesOTUD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736883
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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