A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578382



Internal ID16019105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2194897..2260362hg38UCSC Ensembl
Innerchr19:2194896..2260361hg19UCSC Ensembl
Innerchr19:2145896..2211361hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3865466
hg1965466
hg1865466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv892070
Samples
Known GenesAMH, DOT1L, JSRP1, MIR1227, MIR4321, MIR6789, PLEKHJ1, SF3A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578382
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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