A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258023



Internal ID22200984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27809115..27881230hg38UCSC Ensembl
Outerchr1:28135626..28207741hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3872116
hg1972116
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198949
Supporting Variants
SamplesHG00732
Known GenesPPP1R8, SCARNA1, STX12, THEMIS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258023
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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