A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023513



Internal ID18766046
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5835n100
Supporting Variantsnssv3649215, nssv3649216, nssv3649214
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)nsv1023513
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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