A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228034



Internal ID22370343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131673725..131691641hg38UCSC Ensembl
Outerchr7:131358484..131376400hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278031, nssv14278032
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228034
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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