A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278781



Internal ID22277954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131709457..131712659hg38UCSC Ensembl
Outerchr7:131394216..131397418hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383203
hg193203
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228169
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278781
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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