A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416480



Internal ID22152214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12985905..12985905hg38UCSC Ensembl
chr12:13138839..13138839hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548948
Supporting Variants
SamplesHG00514
Known GenesHEBP1
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)nssv14416480
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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