A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456353



Internal ID15516418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83380429..83411565hg38UCSC Ensembl
Innerchr14:83846773..83877909hg19UCSC Ensembl
Innerchr14:82916526..82947662hg18UCSC Ensembl
Innerchr14:82916526..82947662hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3831137
hg1931137
hg1831137
hg1731137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533688
SamplesHGDP01368
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)nsv456353
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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