A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579616



Internal ID16367025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41896562..41897164hg38UCSC Ensembl
Innerchr19:42400635..42401313hg19UCSC Ensembl
Innerchr19:47092475..47093153hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38603
hg19679
hg18679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899563, nssv899564
Samples
Known GenesARHGEF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579616
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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