A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410755



Internal ID22324849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24657311..24657438hg38UCSC Ensembl
chr10:24946240..24946367hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3274304
Supporting Variants
SamplesNA19240
Known GenesARHGAP21
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14410755
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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