A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271300



Internal ID22267202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194397265..194404278hg38UCSC Ensembl
Outerchr3:194117994..194125007hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387014
hg197014
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206233
Supporting Variants
SamplesNA19238
Known GenesATP13A3, GP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271300
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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