A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534378



Internal ID15506681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:38756030..38806148hg38UCSC Ensembl
Innerchr15:39048231..39098349hg19UCSC Ensembl
Innerchr15:36835523..36885641hg18UCSC Ensembl
Innerchr15:36835523..36885641hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3850119
hg1950119
hg1850119
hg1750119
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457116
Supporting Variants
SamplesHGDP00543
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)nssv534378
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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