A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179399



Internal ID22335537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53769180..53769236hg38UCSC Ensembl
chr8:54681740..54681796hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14438144
SamplesHG00514
Known GenesATP6V1H
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179399
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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