A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210039



Internal ID22358020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48584656..48603630hg38UCSC Ensembl
Outerchr3:48622089..48641063hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3818975
hg1918975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271523
SamplesHG00732
Known GenesCOL7A1, UQCRC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210039
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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