A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255002



Internal ID22144560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16421862..16430230hg38UCSC Ensembl
Outerchr1:16748357..16756725hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg388369
hg198369
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199723
Supporting Variants
SamplesHG00514
Known GenesSPATA21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255002
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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