A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278014



Internal ID22125755
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229810
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278014
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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