A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv911785



Internal ID6273712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42744234..42917102hg19UCSC Ensembl
Outerchr19:42741124..42917545hg19UCSC Ensembl
Innerchr19:47436074..47608942hg18UCSC Ensembl
Outerchr19:47432964..47609385hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1510354
SamplesSP54956
Known GenesCIC, CNFN, ERF, GSK3A, LIPE, MEGF8, PAFAH1B3, PRR19, TMEM145
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv911785
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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