A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458585



Internal ID15171964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86747195..86881088hg38UCSC Ensembl
Innerchr2:86974318..87108211hg19UCSC Ensembl
Innerchr2:86827829..86961722hg18UCSC Ensembl
Innerchr2:86885976..87019869hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38133894
hg19133894
hg18133894
hg17133894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535497
Samples1780862041_A
Known GenesANAPC1P1, CD8A, CD8B, RMND5A
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)nsv458585
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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