A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211005



Internal ID22358707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87399633..87420741hg38UCSC Ensembl
Outerchr6:88109351..88130459hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg382888
hg192888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278914, nssv14278913
SamplesNA19239, NA19240
Known GenesC6orf164, C6orf165
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211005
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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