A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172979



Internal ID22332090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866003..65866347hg38UCSC Ensembl
chr18:63533239..63533583hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3895n152
Supporting Variantsnssv14406798, nssv14465491, nssv14432106
SamplesNA19240, HG00733, HG00514
Known GenesCDH7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172979
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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