A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178858



Internal ID22335233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180312268..180312343hg38UCSC Ensembl
chr1:180281403..180281478hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412902
SamplesHG00514
Known GenesACBD6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3178858
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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