A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2820778



Internal ID21266116
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 StatusM
Merged Variants
Supporting Variantsnssv13706792, nssv13697167
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2820778
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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