A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277297



Internal ID22120949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:454071..461294hg38UCSC Ensembl
Outerchr7:493948..500931hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387224
hg196984
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215773
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277297
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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