A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221144



Internal ID22365627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36398771..36419353hg38UCSC Ensembl
Outerchr7:36438380..36458962hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3820583
hg1920583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277448, nssv14277447
SamplesNA19238, HG00732
Known GenesANLN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221144
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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