A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255706



Internal ID22117702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71899757..71915228hg38UCSC Ensembl
Outerchr11:71610803..71626274hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg388318
hg198318
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241081
Supporting Variants
SamplesHG00512
Known GenesLOC100133315
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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