A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277268



Internal ID22253956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26837573..26898728hg38UCSC Ensembl
Outerchr7:26877192..26938347hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3861156
hg1961156
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227310
Supporting Variants
SamplesNA19238
Known GenesSKAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277268
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