A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954055



Internal ID17302929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48384258..48387357hg38UCSC Ensembl
Outerchr20:47013001..47016100hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999991
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954055
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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