A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181685



Internal ID22336705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6448622..6450257hg38UCSC Ensembl
chr5:6448735..6450370hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381636
hg191636
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n152
Supporting Variantsnssv14425066
SamplesHG00514
Known GenesUBE2QL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181685
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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