A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227371



Internal ID22369890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1051692..1055749hg38UCSC Ensembl
Outerchr6:1051927..1055984hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275375, nssv14275376, nssv14275373, nssv14275377, nssv14275371, nssv14275378, nssv14275374, nssv14275372, nssv14275370
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC285768
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227371
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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