A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455720



Internal ID6031382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114844203..114860818hg19UCSC Ensembl
Innerchr12:113328586..113345201hg18UCSC Ensembl
Innerchr12:113306923..113323538hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv533219
Samples1780862433_A
Known GenesLOC255480, TBX5
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv455720
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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