A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17165447



Internal ID21429744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124350728..124350849hg38UCSC Ensembl
chrX:123484578..123484699hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5671374
Supporting Variants
SamplesHG00731
Known GenesSH2D1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17165447
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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