A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138208



Internal ID337391
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 StatusM
Merged Variants
Supporting Variantsnssv17737481
Samples
Known GenesTHOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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