A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv993101



Internal ID16287057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16225971..16226722hg38UCSC Ensembl
Innerchr4:16227594..16228345hg19UCSC Ensembl
Innerchr4:15836692..15837443hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593774
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)nssv993101
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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