A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444192



Internal ID22240208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124839644..124839644hg38UCSC Ensembl
chr12:125324190..125324190hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550677
Supporting Variants
SamplesHG00733
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)nssv14444192
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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