A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245502



Internal ID21312249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21521901..21569910hg38UCSC Ensembl
Outerchr16:21509217..21574471hg38UCSC Ensembl
Innerchr16:21533222..21581231hg19UCSC Ensembl
Outerchr16:21520538..21585792hg19UCSC Ensembl
Innerchr16:21440723..21488732hg18UCSC Ensembl
Outerchr16:21428039..21493293hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3865255
hg1965255
hg1865255
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169963
Supporting Variants
SamplesSNI_16
Known GenesSLC7A5P2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245502
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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