A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281630



Internal ID22155674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12015513..12435833hg38UCSC Ensembl
Outerchr8:11873022..12293342hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38420321
hg19420321
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221781
Supporting Variants
SamplesHG00514
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC392196, LOC649352, USP17L2, USP17L7, ZNF705D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281630
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