A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182561



Internal ID22337160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6616678..6616923hg38UCSC Ensembl
chr5:6616791..6617036hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466630, nssv14425070
SamplesHG00733, HG00514
Known GenesNSUN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3182561
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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