A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579624



Internal ID16367033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41896804..41898444hg38UCSC Ensembl
Innerchr19:42400893..42402593hg19UCSC Ensembl
Innerchr19:47092733..47094433hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381641
hg191701
hg181701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899591, nssv899590, nssv899585, nssv899589, nssv899587, nssv899592, nssv899584, nssv899588, nssv899583, nssv899586, nssv899593, nssv899582
Samples
Known GenesARHGEF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579624
Frequency
Sample Size17421
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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