A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579997



Internal ID16367406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51722514..51856730hg38UCSC Ensembl
Innerchr19:52225767..52359983hg19UCSC Ensembl
Innerchr19:56917579..57051795hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38134217
hg19134217
hg18134217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150139
SamplesHGDP00936
Known GenesFPR1, FPR2, FPR3, HAS1, ZNF577
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579997
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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