A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387464



Internal ID22303828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32469565..32469565hg38UCSC Ensembl
chr1:32935166..32935166hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531536
Supporting Variants
SamplesNA19240
Known GenesZBTB8B
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)nssv14387464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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