A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578466



Internal ID16019189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6895855..7105125hg38UCSC Ensembl
Innerchr19:6895866..7105136hg19UCSC Ensembl
Innerchr19:6846866..7056136hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38209271
hg19209271
hg18209271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6237n54
Supporting Variantsnssv1150028, nssv1150027, nssv893191
SamplesHGDP00160, 1780854184_A
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578466
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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