A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736430



Internal ID160096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38047600..38178000hg38UCSC Ensembl
chrX:37906853..38037253hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38130401
hg19130401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428863
Supporting Variants
Samples
Known GenesSRPX, SYTL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000836295


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