A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280093



Internal ID22185132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155298550..155337257hg38UCSC Ensembl
Outerchr7:155090260..155129496hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg381241
hg191241
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216181
Supporting Variants
SamplesHG00731
Known GenesINSIG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280093
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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