A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396888



Internal ID22300787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94758872..94758922hg38UCSC Ensembl
chr12:95152648..95152698hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283125
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396888
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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