A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252721



Internal ID22265959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:99533822..99588467hg38UCSC Ensembl
Outerchr10:101293579..101348224hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236343
Supporting Variants
SamplesNA19238
Known GenesNKX2-3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252721
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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