A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243370



Internal ID21690879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49237623..49237623hg38UCSC Ensembl
chrX:49094090..49094090hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729511
Supporting Variants
Samples
Known GenesCCDC22
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)nssv17243370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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