A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737481



Internal ID161147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123503381..123673381hg38UCSC Ensembl
chrX:122637232..122807232hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38170001
hg19170001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138208
Supporting Variants
Samples
Known GenesTHOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737481
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000627484


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