A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138127



Internal ID337309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56708964..56736964hg38UCSC Ensembl
chrX:56735397..56763397hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740269
Samples
Known GenesLOC550643, UQCRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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