A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252079



Internal ID21303748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21503753..21582313hg38UCSC Ensembl
Outerchr16:21401082..21584992hg38UCSC Ensembl
Innerchr16:21515074..21593634hg19UCSC Ensembl
Outerchr16:21412403..21596313hg19UCSC Ensembl
Innerchr16:21422575..21501135hg18UCSC Ensembl
Outerchr16:21319904..21503814hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38183911
hg19183911
hg18183911
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169963
Supporting Variants
SamplesMLY_9
Known GenesLOC100190986, LOC100271836, NPIPB3, SLC7A5P2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14252079
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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