A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580341



Internal ID16021064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54973805..55048372hg38UCSC Ensembl
Innerchr19:55485173..55559740hg19UCSC Ensembl
Innerchr19:60176985..60251552hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3874568
hg1974568
hg1874568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901807
Samples
Known GenesGP6, NLRP2, RDH13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580341
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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