A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716930



Internal ID21743251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72710743..72710743hg38UCSC Ensembl
chrX:71930592..71930592hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203391, nssv17226840
Samples
Known GenesPHKA1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716930
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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