A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277407



Internal ID22192995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38330233..38373352hg38UCSC Ensembl
Outerchr7:38369834..38412953hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3843120
hg1943120
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223735
Supporting Variants
SamplesHG00731
Known GenesTRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277407
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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