A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443585



Internal ID22239679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85879541..85879541hg38UCSC Ensembl
chr12:86273319..86273319hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548171
Supporting Variants
SamplesHG00733
Known GenesNTS
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)nssv14443585
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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