A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237301



Internal ID21684810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132908962..132908962hg38UCSC Ensembl
chrX:132042990..132042990hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719539
Supporting Variants
Samples
Known GenesHS6ST2
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)nssv17237301
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer