A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv880246



Internal ID6287257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:149291532..149306107hg19UCSC Ensembl
Outerchr4:149287807..149311728hg19UCSC Ensembl
Innerchr4:149510982..149525557hg18UCSC Ensembl
Outerchr4:149507257..149531178hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1518920
SamplesSP58561
Known GenesNR3C2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv880246
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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