A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256728



Internal ID22190409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51615913..51647940hg38UCSC Ensembl
Outerchr1:52081585..52113612hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3832028
hg1932028
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204019
Supporting Variants
SamplesHG00731
Known GenesOSBPL9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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