A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225665



Internal ID22368727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8399455..8462305hg38UCSC Ensembl
Outerchr12:8552051..8614901hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3862851
hg1962851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255506, nssv14255014, nssv14255016, nssv14255012, nssv14255507, nssv14255015, nssv14255013, nssv14255017
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCLEC6A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225665
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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