A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256352



Internal ID22189896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95945644..95972824hg38UCSC Ensembl
Outerchr12:96339422..96366602hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3827181
hg1927181
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228665
Supporting Variants
SamplesHG00731
Known GenesAMDHD1, HAL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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