A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458596



Internal ID15518661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88318068..88545622hg38UCSC Ensembl
Innerchr2:88617587..88845140hg19UCSC Ensembl
Innerchr2:88398702..88626255hg18UCSC Ensembl
Innerchr2:88456849..88684402hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38227555
hg19227554
hg18227554
hg17227554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535508
SamplesHGDP00753
Known GenesFOXI3, TEX37
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458596
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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