A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448373



Internal ID22506243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140689451..140693026hg38UCSC Ensembl
chrX:139771616..139775191hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg383576
hg193576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887059
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448373
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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