A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593775



Internal ID16381184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16225971..16226793hg38UCSC Ensembl
Innerchr4:16227594..16228416hg19UCSC Ensembl
Innerchr4:15836692..15837514hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38823
hg19823
hg18823
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv993104, nssv993102, nssv993105, nssv993103, nssv993106
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)nsv593775
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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