A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648142



Internal ID18599737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140340815..140396254hg38UCSC Ensembl
Innerchr5:139720400..139775839hg19UCSC Ensembl
Innerchr5:139700584..139756023hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3855440
hg1955440
hg1855440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020011
Supporting Variants
Samples
Known GenesHBEGF, SLC4A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648142
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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