A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430851



Internal ID22173160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153382566..153382566hg38UCSC Ensembl
chrX:152648024..152648024hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg382722
hg192722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533773
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430851
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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