A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138248



Internal ID337432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114823337..115200953hg38UCSC Ensembl
chrX:114057900..114435516hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38377617
hg19377617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742114
Samples
Known GenesHTR2C, IL13RA2, LRCH2, MIR448, RBMXL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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