A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277486



Internal ID22260047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:57860025..58000294hg38UCSC Ensembl
Outerchr7:57919731..58054331hg19UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38140270
hg19134601
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220797
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277486
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer