A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186125



Internal ID22339029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41852824..41852969hg38UCSC Ensembl
chr1:42318495..42318640hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422487
SamplesHG00514
Known GenesHIVEP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186125
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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