A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533656



Internal ID15512500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48106920..48115341hg38UCSC Ensembl
Innerchr14:48576123..48584544hg19UCSC Ensembl
Innerchr14:47645873..47654294hg18UCSC Ensembl
Innerchr14:47645873..47654294hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg388422
hg198422
hg188422
hg178422
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456312
Supporting Variants
SamplesNINDS_27
Known Genes
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)nssv533656
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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