A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378741



Internal ID22292926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7591126..7591126hg38UCSC Ensembl
chr12:7743722..7743722hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3552761
Supporting Variants
SamplesNA19240
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)nssv14378741
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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