A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410694



Internal ID22288007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138965614..138965830hg38UCSC Ensembl
chr5:138301303..138301519hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203737
Supporting Variants
SamplesNA19240
Known GenesSIL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14410694
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