A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455720



Internal ID8482767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114406398..114423013hg38UCSC Ensembl
Innerchr12:114844203..114860818hg19UCSC Ensembl
Innerchr12:113328586..113345201hg18UCSC Ensembl
Innerchr12:113306923..113323538hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3816616
hg1916616
hg1816616
hg1716616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533219
Samples1780862433_A
Known GenesTBX5, TBX5-AS1
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)nsv455720
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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