A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261389



Internal ID22186488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75895784..75910596hg38UCSC Ensembl
Outerchr17:73891865..73906677hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3814813
hg1914813
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224724
Supporting Variants
SamplesHG00731
Known GenesFBF1, MRPL38, TRIM65
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261389
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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