A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216032



Internal ID22362161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143584113..143785255hg38UCSC Ensembl
Outerchr7:143281206..143482348hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38201143
hg19201143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278149, nssv14278147, nssv14278146, nssv14278144, nssv14278141, nssv14278143, nssv14278148, nssv14278142, nssv14278145
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCTAGE6, FAM115C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216032
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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