A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997362



Internal ID17290314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:118704896..118709495hg38UCSC Ensembl
Outerchr12:119142701..119147300hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952490
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997362
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