A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6137958



Internal ID337139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141574190..141699381hg38UCSC Ensembl
chrX:140662309..140787537hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38125192
hg19125229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742746
Samples
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6137958
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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