A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456147



Internal ID15169526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21605322..21836913hg38UCSC Ensembl
Innerchr14:22073473..22305071hg19UCSC Ensembl
Innerchr14:21143313..21374911hg18UCSC Ensembl
Innerchr14:21143313..21374911hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38231592
hg19231599
hg18231599
hg17231599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533536
SamplesNINDS_244
Known GenesOR10G2, OR4E2
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)nsv456147
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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