A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578666



Internal ID16019389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14620874..14623149hg38UCSC Ensembl
Innerchr19:14731686..14733961hg19UCSC Ensembl
Innerchr19:14592686..14594961hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382276
hg192276
hg182276
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv894852, nssv894849, nssv894851, nssv894847, nssv894848, nssv894850
Samples
Known GenesEMR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578666
Frequency
Sample Size17421
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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