A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251069



Internal ID21303284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21378649..21580019hg38UCSC Ensembl
Outerchr16:21368130..21582134hg38UCSC Ensembl
Innerchr16:21389970..21591340hg19UCSC Ensembl
Outerchr16:21379451..21593455hg19UCSC Ensembl
Innerchr16:21297471..21498841hg18UCSC Ensembl
Outerchr16:21286952..21500956hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38214005
hg19214005
hg18214005
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169963
Supporting Variants
SamplesMLY_5
Known GenesLOC100190986, LOC100271836, NPIPB3, SLC7A5P2, SNX29P1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251069
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer