A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649148



Internal ID18600743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175919582..176315860hg38UCSC Ensembl
Innerchr5:175346585..175742863hg19UCSC Ensembl
Innerchr5:175279191..175675469hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38396279
hg19396279
hg18396279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020635
Supporting Variants
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1, THOC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649148
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