A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210907



Internal ID22358642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57627736..57639858hg38UCSC Ensembl
Outerchr12:58021519..58033641hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3812123
hg1912123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254781, nssv14254782, nssv14254783, nssv14254784
SamplesNA19239, HG00731, NA19240, HG00733
Known GenesB4GALNT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210907
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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