A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596645



Internal ID16384054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..473702hg38UCSC Ensembl
Innerchr5:467624..473817hg19UCSC Ensembl
Innerchr5:520624..526817hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386194
hg196194
hg186194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9484n54
Supporting Variantsnssv1021179, nssv1021177, nssv1021180, nssv1021182, nssv1021176, nssv1021181, nssv1021178, nssv1021175, nssv1021183
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596645
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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