A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456146



Internal ID15516211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20893225..20964296hg38UCSC Ensembl
Innerchr14:21361384..21432455hg19UCSC Ensembl
Innerchr14:20431224..20502295hg18UCSC Ensembl
Innerchr14:20431224..20502295hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871072
hg1971072
hg1871072
hg1771072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533535
SamplesHGDP00472
Known GenesECRP, RNASE2
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)nsv456146
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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