A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277319



Internal ID22198815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38465740..38474783hg38UCSC Ensembl
Outerchr7:38505340..38514383hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg389044
hg199044
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215974
Supporting Variants
SamplesHG00732
Known GenesAMPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277319
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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