A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277892



Internal ID22320486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1923469..1942815hg38UCSC Ensembl
Outerchr7:1963105..1982450hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223168
Supporting Variants
SamplesNA19240
Known GenesMAD1L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277892
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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