A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430351



Internal ID22488221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147231729..147231835hg38UCSC Ensembl
chrX:146313247..146313353hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880041
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430351
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.080


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