A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062182



Internal ID18804713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6890127..7106712hg38UCSC Ensembl
Innerchr19:6890138..7106723hg19UCSC Ensembl
Innerchr19:6841138..7057723hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38216586
hg19216586
hg18216586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3723266, nssv3564637, nssv3564636, nssv3723267, nssv3723265, nssv3564638, nssv3723264
Samples
Known GenesEMR1, EMR4P, FLJ25758, 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)nsv1062182
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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