A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533570



Internal ID15504314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:33585737..33611702hg38UCSC Ensembl
Innerchr14:34054943..34080908hg19UCSC Ensembl
Innerchr14:33124694..33150659hg18UCSC Ensembl
Innerchr14:33124694..33150659hg17UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3825966
hg1925966
hg1825966
hg1725966
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456202
Supporting Variants
Samples1782681093_A
Known GenesNPAS3
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)nssv533570
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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