A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593777



Internal ID16381186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16226154..16226793hg38UCSC Ensembl
Innerchr4:16227777..16228416hg19UCSC Ensembl
Innerchr4:15836875..15837514hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38640
hg19640
hg18640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8980n54
Supporting Variantsnssv993111, nssv993109, nssv993110
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)nsv593777
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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