A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999908



Internal ID17292860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1580455..1607754hg38UCSC Ensembl
Outerchr20:1561101..1588400hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3827300
hg1927300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952972
Supporting Variants
SamplesBILGI_BIOE
Known GenesSIRPB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999908
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