A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205717



Internal ID22354370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128083269..128086602hg38UCSC Ensembl
chr12:128567814..128571147hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2056n152
Supporting Variantsnssv14424269, nssv14424268
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205717
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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