A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875013



Internal ID6282024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128178191..128182994hg19UCSC Ensembl
Outerchr2:128177974..128183145hg19UCSC Ensembl
Innerchr2:127894661..127899464hg18UCSC Ensembl
Outerchr2:127894444..127899615hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1508783
SamplesSP54725
Known GenesMIR4783, PROC
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875013
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer