A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139031



Internal ID338215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:647203..648240hg38UCSC Ensembl
chrX:607938..608975hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736076
Samples
Known GenesSHOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139031
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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