A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037387



Internal ID18779918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60742756..61066784hg38UCSC Ensembl
Innerchr14:61209474..61533502hg19UCSC Ensembl
Innerchr14:60279227..60603255hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38324029
hg19324029
hg18324029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531046
Samples
Known GenesMNAT1, SLC38A6, TRMT5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037387
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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