A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261310



Internal ID22185477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9897388..9902879hg38UCSC Ensembl
Outerchr17:9800705..9806196hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382474
hg192474
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233383
Supporting Variants
SamplesHG00731
Known GenesRCVRN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261310
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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