A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463295



Internal ID15176674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115029744..115066582hg38UCSC Ensembl
Innerchr1:115572365..115609203hg19UCSC Ensembl
Innerchr1:115373888..115410726hg18UCSC Ensembl
Innerchr1:115284407..115321245hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3836839
hg1936839
hg1836839
hg1736839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539317
Samples1780854464_A
Known GenesTSHB, TSPAN2
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)nsv463295
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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