A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533694



Internal ID15502579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:85960618..86033755hg38UCSC Ensembl
Innerchr14:86426962..86500099hg19UCSC Ensembl
Innerchr14:85496715..85569852hg18UCSC Ensembl
Innerchr14:85496715..85569852hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3873138
hg1973138
hg1873138
hg1773138
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456361
Supporting Variants
Samples1780854459_A
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)nssv533694
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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