A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386694



Internal ID22301895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840032..124840032hg38UCSC Ensembl
chr12:125324578..125324578hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549522
Supporting Variants
SamplesNA19240
Known GenesSCARB1
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)nssv14386694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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