A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599622



Internal ID16387031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121600538..121696680hg38UCSC Ensembl
Innerchr5:120936233..121032375hg19UCSC Ensembl
Innerchr5:120964132..121060274hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3896143
hg1996143
hg1896143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10056n54
Supporting Variantsnssv1031999, nssv1153991
Samples1780846321_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599622
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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