A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533554



Internal ID15504640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27554600..27617524hg38UCSC Ensembl
Innerchr14:28023806..28086730hg19UCSC Ensembl
Innerchr14:27093646..27156570hg18UCSC Ensembl
Innerchr14:27093646..27156570hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3862925
hg1962925
hg1862925
hg1762925
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456178
Supporting Variants
Samples1787431198_A
Known GenesLINC00645
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)nssv533554
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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