A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252824



Internal ID22195792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:119662545..119672973hg38UCSC Ensembl
Outerchr10:121422057..121432485hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241371
Supporting Variants
SamplesHG00731
Known GenesBAG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252824
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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