A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13706589



Internal ID21228336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108473616..108473616hg38UCSC Ensembl
chrX:107716846..107716846hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2820050
Supporting Variants
Samples
Known GenesCOL4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13706589
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.466667


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