A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740712



Internal ID164378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73086542..73114771hg38UCSC Ensembl
chrX:72306381..72334610hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3828230
hg1928230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421740
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000836645


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