A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430766



Internal ID22173033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:67762911..67762911hg38UCSC Ensembl
chrX:66982753..66982753hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382117
hg192117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533810
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430766
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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