A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260988



Internal ID22264373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64129743..64153221hg38UCSC Ensembl
Outerchr17:62207103..62230581hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3823479
hg1923479
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223137
Supporting Variants
SamplesNA19238
Known GenesERN1, SNORA76, SNORD104, TEX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260988
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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