A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912145



Internal ID6274072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45714978..45818835hg19UCSC Ensembl
Outerchr19:45708888..45820238hg19UCSC Ensembl
Innerchr19:50406818..50510675hg18UCSC Ensembl
Outerchr19:50400728..50512078hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1510360
SamplesSP54956
Known GenesCKM, EXOC3L2, MARK4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912145
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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