A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138762



Internal ID337946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119687566..119697566hg38UCSC Ensembl
chrX:118821529..118831529hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737334
Samples
Known GenesSEPT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer