A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952998



Internal ID16955185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:21504663..21524162hg38UCSC Ensembl
Outerchr20:21485301..21504800hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg3819500
hg1919500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999934
SamplesBILGI_BIOE
Known GenesNKX2-2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952998
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