A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271080



Internal ID22123091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68071868..68082009hg38UCSC Ensembl
Outerchr3:68121018..68131159hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3810142
hg1910142
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202852
Supporting Variants
SamplesHG00512
Known GenesFAM19A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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