A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271527



Internal ID22234318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:65122310..65155768hg38UCSC Ensembl
Outerchr3:65107985..65141443hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3833459
hg1933459
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199192
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271527
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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