A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278100



Internal ID22154472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:113744808..113791390hg38UCSC Ensembl
Outerchr7:113384863..113431445hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3846583
hg1946583
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215966
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278100
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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