A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218081



Internal ID22363545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13713817..13713876hg38UCSC Ensembl
chr10:13755817..13755876hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv813n152
Supporting Variantsnssv14437486, nssv14412193, nssv14464368
SamplesNA19240, HG00733, HG00514
Known GenesFRMD4A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218081
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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