A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742745



Internal ID166411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141565100..141767381hg38UCSC Ensembl
chrX:140653169..140855167hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38202282
hg19201999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415387
Supporting Variants
Samples
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000635728


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