A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001293



Internal ID17294245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237945159..237947058hg38UCSC Ensembl
Outerchr2:238853801..238855700hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953214
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001293
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