A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270884



Internal ID22208525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:175216900..175242093hg38UCSC Ensembl
Outerchr3:174934690..174959882hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3825194
hg1925193
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197657
Supporting Variants
SamplesHG00732
Known GenesNAALADL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270884
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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