A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209967



Internal ID22357960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133635182..133635452hg38UCSC Ensembl
chrX:132769210..132769480hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10293n152
Supporting Variantsnssv14412678
SamplesHG00514
Known GenesGPC3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209967
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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