A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215974



Internal ID22362123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38465740..38474783hg38UCSC Ensembl
Outerchr7:38505340..38514383hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg389044
hg199044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277318, nssv14277319
SamplesHG00512, HG00732
Known GenesAMPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215974
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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