A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245744



Internal ID21311853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21378649..21503752hg38UCSC Ensembl
Outerchr16:21368130..21503753hg38UCSC Ensembl
Innerchr16:21389970..21515073hg19UCSC Ensembl
Outerchr16:21379451..21515074hg19UCSC Ensembl
Innerchr16:21297471..21422574hg18UCSC Ensembl
Outerchr16:21286952..21422575hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38135624
hg19135624
hg18135624
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169963
Supporting Variants
SamplesSNI_13
Known GenesLOC100190986, LOC100271836, NPIPB3, SNX29P1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245744
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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