A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059416



Internal ID18801947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6912049..7138691hg38UCSC Ensembl
Innerchr19:6912060..7138702hg19UCSC Ensembl
Innerchr19:6863060..7089702hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38226643
hg19226643
hg18226643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3564648
Samples
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059416
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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