A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065068



Internal ID18807599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6890127..7103958hg38UCSC Ensembl
Innerchr19:6890138..7103969hg19UCSC Ensembl
Innerchr19:6841138..7054969hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38213832
hg19213832
hg18213832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3564633, nssv3564631, nssv3564632, nssv3564634, nssv3564635
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)nsv1065068
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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