A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648137



Internal ID18599732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138461691..138481256hg38UCSC Ensembl
Innerchr5:137797380..137816945hg19UCSC Ensembl
Innerchr5:137825279..137844844hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3819566
hg1919566
hg1819566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017080
Supporting Variants
Samples
Known GenesEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648137
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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