A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449570



Internal ID22507440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13542948..13597491hg38UCSC Ensembl
chrX:13561067..13615610hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3854544
hg1954544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873429
Supporting Variants
Samples
Known GenesEGFL6, MIR6086
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449570
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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