A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253012



Internal ID22253907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132708194..132722801hg38UCSC Ensembl
Outerchr10:134521698..134536305hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381558
hg191558
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239531
Supporting Variants
SamplesNA19238
Known GenesINPP5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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