A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029384



Internal ID18771915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176050105..176241562hg38UCSC Ensembl
Innerchr5:175477108..175668565hg19UCSC Ensembl
Innerchr5:175409714..175601171hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38191458
hg19191458
hg18191458
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5835n100
Supporting Variantsnssv3649236, nssv3649238, nssv3649237
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)nsv1029384
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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