A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6109116



Internal ID22018349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:78123742..78640713hg38UCSC Ensembl
chrX:77379239..77896210hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38516972
hg19516972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17639067
Samples
Known GenesCYSLTR1, PGK1, TAF9B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6109116
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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