A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260582



Internal ID22133214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20036237..20098901hg38UCSC Ensembl
Outerchr17:19939550..20002214hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383678
hg193678
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235785
Supporting Variants
SamplesHG00513
Known GenesSPECC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260582
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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