A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252802



Internal ID22127650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:114077668..114102939hg38UCSC Ensembl
Outerchr10:115837427..115862698hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381960
hg191960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232041
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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