A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533885



Internal ID22403182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171866627..171866627hg38UCSC Ensembl
chr2:172723137..172723137hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394906
SamplesNA19240
Known GenesSLC25A12
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)nsv3533885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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