A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649215



Internal ID18600810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176048789..176245085hg38UCSC Ensembl
Innerchr5:175475792..175672088hg19UCSC Ensembl
Innerchr5:175408398..175604694hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38196297
hg19196297
hg18196297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023513
Supporting Variants
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649215
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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