A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740823



Internal ID164489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:76111054..76291794hg38UCSC Ensembl
chrX:75330889..75512193hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38180741
hg19181305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138484
Supporting Variants
Samples
Known GenesPBDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00062435


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