A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17165523



Internal ID21445331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130405824..130406153hg38UCSC Ensembl
chrX:129539798..129540127hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665903
Supporting Variants
SamplesHG00732
Known GenesRBMX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17165523
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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