A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469460



Internal ID15529525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13051151..13142111hg38UCSC Ensembl
Innerchr2:13191276..13282236hg19UCSC Ensembl
Innerchr2:13108727..13199687hg18UCSC Ensembl
Innerchr2:13141874..13232834hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3890961
hg1990961
hg1890961
hg1790961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv442n27
Supporting Variantsnssv544322
Samples1788485588_A
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)nsv469460
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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