A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224147



Internal ID22367668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20658576..20683017hg38UCSC Ensembl
Outerchr7:20698199..20722640hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278461, nssv14278460, nssv14278463, nssv14278462, nssv14278458, nssv14278465, nssv14278459, nssv14278464, nssv14278457
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesABCB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224147
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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