A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429033



Internal ID22170554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5043166..5043166hg38UCSC Ensembl
chrX:4961207..4961207hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389634
hg199634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530234
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)nssv14429033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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