A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213486



Internal ID22360419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43509020..43523466hg38UCSC Ensembl
Outerchr7:43548619..43563065hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280270
SamplesHG00512
Known GenesHECW1, LOC100506895
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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