A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455852



Internal ID15515917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20925982..20943569hg38UCSC Ensembl
Innerchr2:21125742..21143329hg19UCSC Ensembl
Innerchr2:20989223..21006810hg18UCSC Ensembl
Innerchr2:21047370..21064957hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3817588
hg1917588
hg1817588
hg1717588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533319
SamplesHGDP01308
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)nsv455852
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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