A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169583



Internal ID21313816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47996568..48029942hg38UCSC Ensembl
Outerchr14:47992529..48039363hg38UCSC Ensembl
Innerchr14:48465771..48499145hg19UCSC Ensembl
Outerchr14:48461732..48508566hg19UCSC Ensembl
Innerchr14:47535521..47568895hg18UCSC Ensembl
Outerchr14:47531482..47578316hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3846835
hg1946835
hg1846835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245794
SamplesNGO_8
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169583
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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