A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191760



Internal ID22342425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51355870..51356432hg38UCSC Ensembl
chr12:51749654..51750216hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443997
SamplesHG00733
Known GenesGALNT6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191760
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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