A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540152



Internal ID15159593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161828449..162097657hg38UCSC Ensembl
Innerchr1:161798239..162067447hg19UCSC Ensembl
Innerchr1:160064863..160334071hg18UCSC Ensembl
Innerchr1:158529897..158799105hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38269209
hg19269209
hg18269209
hg17269209
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464206
Supporting Variants
SamplesHGDP00458
Known GenesATF6, NOS1AP, OLFML2B
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)nssv540152
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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