A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13697167



Internal ID21219016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72681899..72681899hg38UCSC Ensembl
chrX:71901749..71901749hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2820778
Supporting Variants
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13697167
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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