A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556062



Internal ID22424896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58462761..58462761hg38UCSC Ensembl
chr12:58856544..58856544hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444159, nssv14415713
SamplesHG00733, HG00514
Known Genes
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)nsv3556062
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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