A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046630



Internal ID19135849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48319210..48450204hg38UCSC Ensembl
Innerchr14:48788413..48919407hg19UCSC Ensembl
Innerchr14:47858163..47989157hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38130995
hg19130995
hg18130995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1918n100
Supporting Variantsnssv3713491
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)nsv1046630
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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