A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417647



Internal ID196838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103920542..104082542hg38UCSC Ensembl
chrX:103175125..103324337hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38162001
hg19149213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737139
Samples
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256, TMSB15B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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