A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226795



Internal ID22369479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:126628278..126682830hg38UCSC Ensembl
Outerchr7:126268332..126322884hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg382634
hg192634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279690
SamplesNA19239
Known GenesGRM8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226795
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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