A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252999



Internal ID22254132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132137277..132175328hg38UCSC Ensembl
Outerchr10:133950781..133988832hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg385543
hg195543
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247650
Supporting Variants
SamplesNA19238
Known GenesJAKMIP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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