A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064608



Internal ID19153827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42786621..43190766hg38UCSC Ensembl
Innerchr19:43290773..43694918hg19UCSC Ensembl
Innerchr19:47982613..48386758hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38404146
hg19404146
hg18404146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3557n100
Supporting Variantsnssv3569001
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG5, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064608
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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