A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv993112



Internal ID16287068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16226228..16232164hg38UCSC Ensembl
Innerchr4:16227851..16233787hg19UCSC Ensembl
Innerchr4:15836949..15842885hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg385937
hg195937
hg185937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593778
Supporting Variants
Samples
Known GenesTAPT1, TAPT1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv993112
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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