A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456342



Internal ID15516407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75553412..75579019hg38UCSC Ensembl
Innerchr14:76019755..76045362hg19UCSC Ensembl
Innerchr14:75089508..75115115hg18UCSC Ensembl
Innerchr14:75089508..75115115hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3825608
hg1925608
hg1825608
hg1725608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533682
SamplesHGDP01169
Known GenesFLVCR2
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)nsv456342
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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