A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261265



Internal ID22133448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30133378..30176390hg38UCSC Ensembl
Outerchr17:28460396..28503408hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238695
Supporting Variants
SamplesHG00513
Known GenesNSRP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261265
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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