A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171996



Internal ID22331581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99641060..99641234hg38UCSC Ensembl
chr3:99359904..99360078hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424082
SamplesHG00514
Known GenesCOL8A1, MIR548G
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171996
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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