A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218490



Internal ID22363813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42488064..42498002hg38UCSC Ensembl
Outerchr7:42527663..42537601hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279616, nssv14279615, nssv14279618, nssv14279617
SamplesNA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218490
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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