A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225619



Internal ID22368694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95939321..95957958hg38UCSC Ensembl
Outerchr12:96333099..96351736hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3818638
hg1918638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255192, nssv14255195, nssv14255191, nssv14255197, nssv14255193, nssv14255194, nssv14255190, nssv14255198, nssv14255196
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAMDHD1, CCDC38
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225619
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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