A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397788



Internal ID22288257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122124331..122124414hg38UCSC Ensembl
chr12:122608878..122608961hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283403
Supporting Variants
SamplesNA19240
Known GenesMLXIP
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)nssv14397788
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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