A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432106



Internal ID22174936
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 StatusS
Merged Variantsnsv3172979
Supporting Variants
SamplesHG00514
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)nssv14432106
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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