A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455708



Internal ID15515773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062091..13148893hg38UCSC Ensembl
Innerchr2:13202216..13289018hg19UCSC Ensembl
Innerchr2:13119667..13206469hg18UCSC Ensembl
Innerchr2:13152814..13239616hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3886803
hg1986803
hg1886803
hg1786803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv442n27
Supporting Variantsnssv533211
SamplesNINDS_222
Known Genes
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)nsv455708
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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