A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912255



Internal ID6274182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49564124..49670651hg19UCSC Ensembl
Outerchr19:49560461..49675233hg19UCSC Ensembl
Innerchr19:54255936..54362463hg18UCSC Ensembl
Outerchr19:54252273..54367045hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1576789
SamplesIS34235
Known GenesC19orf73, HRC, KCNA7, LIN7B, NTF4, PPFIA3, SNRNP70, TRPM4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912255
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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