A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724457



Internal ID21750778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123789029..123789029hg38UCSC Ensembl
chrX:122922879..122922879hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239999, nssv17249788
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724457
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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