A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460021



Internal ID15173400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205627674..205747861hg38UCSC Ensembl
Innerchr2:206492398..206612585hg19UCSC Ensembl
Innerchr2:206200643..206320830hg18UCSC Ensembl
Innerchr2:206317904..206438091hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38120188
hg19120188
hg18120188
hg17120188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536649
Samples1798860279_A
Known GenesNRP2
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)nsv460021
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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