A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv873754



Internal ID6280765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27438710..27667297hg19UCSC Ensembl
Outerchr2:27428295..27677691hg19UCSC Ensembl
Innerchr2:27292214..27520801hg18UCSC Ensembl
Outerchr2:27281799..27531195hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1585802, nssv1543377
SamplesIS37646, MS16153
Known GenesC2orf28, CAD, DNAJC5G, EIF2B4, FTH1P3, GTF3C2, IFT172, KRTCAP3, LOC100505624, MPV17, NRBP1, PPM1G, SLC30A3, SLC5A6, SNX17, TRIM54, UCN, ZNF513
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv873754
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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