A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598645



Internal ID16386054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73447162..73448642hg38UCSC Ensembl
Innerchr5:72742989..72744467hg19UCSC Ensembl
Innerchr5:72778745..72780223hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381481
hg191479
hg181479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035086, nssv1035085, nssv1035084
Samples
Known GenesFOXD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598645
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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