A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443999



Internal ID22227370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107914287..107914287hg38UCSC Ensembl
chr12:108308064..108308064hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383939
hg193939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551512
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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