A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191714



Internal ID22342385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127634302..127634372hg38UCSC Ensembl
chr12:128118847..128118917hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415814
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)nsv3191714
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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