A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253448



Internal ID22130724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:119665982..119672381hg38UCSC Ensembl
Outerchr10:121425494..121431893hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg3840524
hg1940524
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231407
Supporting Variants
SamplesHG00513
Known GenesBAG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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