A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198775



Internal ID22348461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5927387..5933650hg38UCSC Ensembl
chr12:6036553..6042816hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386264
hg196264
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1695n152
Supporting Variantsnssv14420930, nssv14447914, nssv14420931, nssv14447913
SamplesHG00733, HG00514
Known GenesANO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198775
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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