A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185800



Internal ID22338855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51069351..51069757hg38UCSC Ensembl
chr12:51463134..51463540hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394310
SamplesNA19240
Known GenesCSRNP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185800
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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