A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443526



Internal ID22239625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22869636..22869636hg38UCSC Ensembl
chr12:23022570..23022570hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545857
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14443526
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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