A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455767



Internal ID15515832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130894769..130948639hg38UCSC Ensembl
Innerchr12:131379314..131433184hg19UCSC Ensembl
Innerchr12:129945267..129999137hg18UCSC Ensembl
Innerchr12:129904194..129958064hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3853871
hg1953871
hg1853871
hg1753871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533252
SamplesHGDP00863
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)nsv455767
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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