A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257425



Internal ID22191255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115812848..115837705hg38UCSC Ensembl
Outerchr1:116355469..116380326hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3824858
hg1924858
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198732
Supporting Variants
SamplesHG00731
Known GenesNHLH2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257425
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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