A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533741



Internal ID15508324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:97388442..97435084hg38UCSC Ensembl
Innerchr14:97854779..97901421hg19UCSC Ensembl
Innerchr14:96924532..96971174hg18UCSC Ensembl
Innerchr14:96924532..96971174hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3846643
hg1946643
hg1846643
hg1746643
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456415
Supporting Variants
SamplesHGDP00802
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)nssv533741
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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