A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229031



Internal ID22371013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:66386014..66411625hg38UCSC Ensembl
Outerchr7:65851001..65876612hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3825612
hg1925612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8565n152
Supporting Variantsnssv14277371, nssv14277370, nssv14277372
SamplesHG00731, HG00513, HG00514
Known GenesLINC00174
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229031
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer