A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460455



Internal ID15173834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18344240..18386958hg38UCSC Ensembl
Innerchr3:18385732..18428450hg19UCSC Ensembl
Innerchr3:18360736..18403454hg18UCSC Ensembl
Innerchr3:18360736..18403454hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3842719
hg1942719
hg1842719
hg1742719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537023
SamplesNINDS_91
Known GenesSATB1
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)nsv460455
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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