A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537114



Internal ID15158729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15689491..15753676hg38UCSC Ensembl
Innerchr1:16015986..16080171hg19UCSC Ensembl
Innerchr1:15888573..15952758hg18UCSC Ensembl
Innerchr1:15761292..15825477hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3864186
hg1964186
hg1864186
hg1764186
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460572
Supporting Variants
SamplesHGDP00130
Known GenesPLEKHM2, SLC25A34, TMEM82
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)nssv537114
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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