A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271721



Internal ID22277456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:150810107..150846859hg38UCSC Ensembl
Outerchr3:150527894..150564646hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3836753
hg1936753
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192000
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271721
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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