A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229251



Internal ID22371155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1236017..1277225hg38UCSC Ensembl
Outerchr7:1275653..1316861hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385810
hg195810
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8348n152
Supporting Variantsnssv14280250
SamplesHG00512
Known GenesUNCX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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