A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595747



Internal ID16383156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153013487..153030007hg38UCSC Ensembl
Innerchr4:153934639..153951159hg19UCSC Ensembl
Innerchr4:154154089..154170609hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3816521
hg1916521
hg1816521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1009626
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595747
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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