A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578468



Internal ID16019191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6901880..7105125hg38UCSC Ensembl
Innerchr19:6901891..7105136hg19UCSC Ensembl
Innerchr19:6852891..7056136hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38203246
hg19203246
hg18203246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6237n54
Supporting Variantsnssv1150029, nssv893194
SamplesNINDS_231
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)nsv578468
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer