A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216760



Internal ID22362646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44567627..44568926hg38UCSC Ensembl
Outerchr7:44607226..44608525hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279521
SamplesHG00513
Known GenesDDX56
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216760
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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