A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028027



Internal ID18770558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80398880..80545933hg38UCSC Ensembl
Innerchr5:79694699..79841752hg19UCSC Ensembl
Innerchr5:79730455..79877508hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38147054
hg19147054
hg18147054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639052
Samples
Known GenesFAM151B, ZFYVE16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028027
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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