A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912254



Internal ID6274181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49564124..49632772hg19UCSC Ensembl
Outerchr19:49560461..49640002hg19UCSC Ensembl
Innerchr19:54255936..54324584hg18UCSC Ensembl
Outerchr19:54252273..54331814hg18UCSC 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 Variantsnssv1565231
SamplesIS30369
Known GenesC19orf73, KCNA7, LIN7B, NTF4, PPFIA3, SNRNP70
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912254
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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