A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277438



Internal ID22198834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32345314..32387928hg38UCSC Ensembl
Outerchr7:32384926..32427540hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3842615
hg1942615
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220323
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277438
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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