A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404045



Internal ID22308543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:144373423..144373423hg38UCSC Ensembl
chrX:143456516..143456516hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542837
Supporting Variants
SamplesNA19240
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)nssv14404045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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