A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271001



Internal ID22267611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72418106..72459925hg38UCSC Ensembl
Outerchr3:72467257..72509076hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3841820
hg1941820
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207928
Supporting Variants
SamplesNA19238
Known GenesRYBP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271001
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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