A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171130



Internal ID22331126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120977130..120986849hg38UCSC Ensembl
chrX:120110984..120120703hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg389720
hg199720
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412651, nssv14389681
SamplesNA19240, HG00514
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A8, CT47A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171130
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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