A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260804



Internal ID22222403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1738577..1752562hg38UCSC Ensembl
Outerchr17:1641871..1655856hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3813986
hg1913986
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227587
Supporting Variants
SamplesHG00733
Known GenesSERPINF2, WDR81
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260804
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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