A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223155



Internal ID22367009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:66390644..66402781hg38UCSC Ensembl
Outerchr7:65855631..65867768hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3812138
hg1912138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277505, nssv14277503, nssv14277504, nssv14277509, nssv14277506, nssv14277508, nssv14277507
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLINC00174
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223155
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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