A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043948



Internal ID19133167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55926860..55957075hg38UCSC Ensembl
Innerchr14:56393578..56423793hg19UCSC Ensembl
Innerchr14:55463331..55493546hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3830216
hg1930216
hg1830216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1921n100
Supporting Variantsnssv3531028
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043948
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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