A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456224



Internal ID15516289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40963145..41590078hg38UCSC Ensembl
Innerchr14:41432350..42059281hg19UCSC Ensembl
Innerchr14:40502100..41129031hg18UCSC Ensembl
Innerchr14:40502100..41129031hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38626934
hg19626932
hg18626932
hg17626932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533588
SamplesHGDP00745
Known GenesLOC644919
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)nsv456224
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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