A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580108



Internal ID16020831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53674019..53800458hg38UCSC Ensembl
Innerchr19:54177273..54303712hg19UCSC Ensembl
Innerchr19:58869085..58995524hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38126440
hg19126440
hg18126440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150177
SamplesHGDP01238
Known GenesMIR1283-1, MIR1283-2, MIR371A, MIR371B, MIR372, MIR373, MIR498, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, NLRP12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580108
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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