A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537098



Internal ID15508563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15192296..15224029hg38UCSC Ensembl
Innerchr1:15518792..15550525hg19UCSC Ensembl
Innerchr1:15391379..15423112hg18UCSC Ensembl
Innerchr1:15264098..15295831hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3831734
hg1931734
hg1831734
hg1731734
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460550
Supporting Variants
SamplesHGDP00863
Known GenesTMEM51
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)nssv537098
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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