A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606472



Internal ID16047195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:28533947..28535389hg38UCSC Ensembl
Innerchr7:28573565..28575007hg19UCSC Ensembl
Innerchr7:28540090..28541532hg18UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg381443
hg191443
hg181443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11245n54
Supporting Variantsnssv1081517
Samples
Known GenesCREB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606472
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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