A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228665



Internal ID22370779
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256353, nssv14256352
SamplesHG00731, HG00732
Known GenesAMDHD1, HAL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228665
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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