A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430046



Internal ID22172003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47089410..47089410hg38UCSC Ensembl
chrX:46948809..46948809hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381376
hg191376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530131
Supporting Variants
SamplesHG00514
Known GenesRGN
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)nssv14430046
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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