A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226164



Internal ID22369066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12401141..12401317hg38UCSC Ensembl
chr10:12443140..12443316hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv802n152
Supporting Variantsnssv14411073
SamplesNA19240
Known GenesCAMK1D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226164
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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