A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429034



Internal ID22170555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5047705..5057174hg38UCSC Ensembl
chrX:4965746..4975215hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389470
hg199470
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178730
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14429034
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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