A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178730



Internal ID22335171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5047705..5057174hg38UCSC Ensembl
chrX:4965746..4975215hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389470
hg199470
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10014n152
Supporting Variantsnssv14429034
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)nsv3178730
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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