A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277802



Internal ID22207245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138310166..138325132hg38UCSC Ensembl
Outerchr7:137994911..138009877hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3814967
hg1914967
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225895
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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