A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1021229



Internal ID16315185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:468129..473702hg38UCSC Ensembl
Innerchr5:468244..473817hg19UCSC Ensembl
Innerchr5:521244..526817hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385574
hg195574
hg185574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv596671
Supporting Variants
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1021229
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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