A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229810



Internal ID22371536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:125228286..125240890hg38UCSC Ensembl
Outerchr7:124868340..124880944hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278016, nssv14278014, nssv14278015
SamplesHG00512, NA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229810
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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