A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172519



Internal ID22331846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48684020..48684152hg38UCSC Ensembl
chrX:48542409..48542541hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439949
SamplesHG00733
Known GenesWAS
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172519
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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