A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210810



Internal ID22358587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5973600..6751185hg38UCSC Ensembl
Outerchr7:6013231..6790816hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381834
hg191834
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277913, nssv14277912
SamplesNA19238, HG00731
Known GenesAIMP2, ANKRD61, C7orf26, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, PMS2, PMS2CL, RAC1, USP42, ZDHHC4, ZNF12, ZNF316, ZNF853
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210810
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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