A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459030



Internal ID15519095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:115043032..115077076hg38UCSC Ensembl
Innerchr2:115800609..115834653hg19UCSC Ensembl
Innerchr2:115517079..115551123hg18UCSC Ensembl
Innerchr2:115516839..115550883hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3834045
hg1934045
hg1834045
hg1734045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv474n27
Supporting Variantsnssv535871
Samples1780862001_A
Known GenesDPP10
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)nsv459030
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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