A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261371



Internal ID22145519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75895784..75900058hg38UCSC Ensembl
Outerchr17:73891865..73896139hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384275
hg194275
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216302
Supporting Variants
SamplesHG00514
Known GenesMRPL38, TRIM65
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261371
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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