A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456148



Internal ID15516213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21774090..21824640hg38UCSC Ensembl
Innerchr14:22242293..22292805hg19UCSC Ensembl
Innerchr14:21312133..21362645hg18UCSC Ensembl
Innerchr14:21312133..21362645hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3850551
hg1950513
hg1850513
hg1750513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533537
SamplesNINDS_160
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)nsv456148
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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