A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030475



Internal ID19119694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5680651..5713974hg38UCSC Ensembl
Innerchr5:5680764..5714087hg19UCSC Ensembl
Innerchr5:5733764..5767087hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3833324
hg1933324
hg1833324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5555n100
Supporting Variantsnssv3638539, nssv3638540
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030475
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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