A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430778



Internal ID22173053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71500345..71500345hg38UCSC Ensembl
chrX:70720195..70720195hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535956
Supporting Variants
SamplesHG00514
Known GenesBCYRN1, TAF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a HERV mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430778
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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