A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385302



Internal ID22312741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52783942..52783942hg38UCSC Ensembl
chr1:53249614..53249614hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538948
Supporting Variants
SamplesNA19240
Known GenesZYG11B
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)nssv14385302
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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