A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586838



Internal ID18885119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227704274..227745668hg38UCSC Ensembl
Innerchr2:228568990..228610384hg19UCSC Ensembl
Innerchr2:228277234..228318628hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3841395
hg1941395
hg1841395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009159
Supporting Variants
Samples
Known GenesSLC19A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586838
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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