A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042690



Internal ID19131909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48193242..48242035hg38UCSC Ensembl
Innerchr14:48662445..48711238hg19UCSC Ensembl
Innerchr14:47732195..47780988hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3848794
hg1948794
hg1848794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713487
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)nsv1042690
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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