A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170761



Internal ID22330919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117214474..117214607hg38UCSC Ensembl
chr5:116550170..116550303hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424635, nssv14399383, nssv14461409
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3170761
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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