A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252941



Internal ID22273535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:128460078..128472147hg38UCSC Ensembl
Outerchr10:130258342..130270411hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg385447
hg195447
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231619
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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