A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455728



Internal ID15515793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119917759..119958491hg38UCSC Ensembl
Innerchr12:120355563..120396295hg19UCSC Ensembl
Innerchr12:118839946..118880678hg18UCSC Ensembl
Innerchr12:118818283..118859015hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3840733
hg1940733
hg1840733
hg1740733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533224
SamplesHGDP00572
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)nsv455728
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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