A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176536



Internal ID22333928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62600726..62601087hg38UCSC Ensembl
chr1:63066397..63066758hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391033
SamplesNA19240
Known GenesANGPTL3, DOCK7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176536
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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