A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578344



Internal ID16019067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1862991..1865220hg38UCSC Ensembl
Innerchr19:1862990..1865219hg19UCSC Ensembl
Innerchr19:1813990..1816219hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382230
hg192230
hg182230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6211n54
Supporting Variantsnssv891957, nssv891958, nssv891956
Samples
Known GenesKLF16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578344
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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