A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457175



Internal ID15170554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:59317554..59389015hg38UCSC Ensembl
Innerchr15:59609753..59681214hg19UCSC Ensembl
Innerchr15:57397045..57468506hg18UCSC Ensembl
Innerchr15:57397045..57468506hg17UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3871462
hg1971462
hg1871462
hg1771462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534420
SamplesHGDP01179
Known GenesMYO1E
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)nsv457175
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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