A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534441



Internal ID15164424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:71992306..72037565hg38UCSC Ensembl
Innerchr15:72284647..72329906hg19UCSC Ensembl
Innerchr15:70071701..70116960hg18UCSC Ensembl
Innerchr15:70071701..70116960hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3845260
hg1945260
hg1845260
hg1745260
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457201
Supporting Variants
SamplesHGDP01355
Known GenesMYO9A
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)nssv534441
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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