A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217833



Internal ID22363370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108163519..108169918hg38UCSC Ensembl
Outerchr7:107803964..107810363hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280023
SamplesHG00513
Known GenesNRCAM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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