A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456405



Internal ID15516470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94342423..94375205hg38UCSC Ensembl
Innerchr14:94808760..94841542hg19UCSC Ensembl
Innerchr14:93878513..93911295hg18UCSC Ensembl
Innerchr14:93878513..93911295hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3832783
hg1932783
hg1832783
hg1732783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533733
SamplesNINDS_60
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)nsv456405
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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