A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270820



Internal ID22146860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:136291767..136315317hg38UCSC Ensembl
Outerchr3:136010609..136034159hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3823551
hg1923551
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203089
Supporting Variants
SamplesHG00514
Known GenesPCCB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270820
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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