A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542550



Internal ID15507919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195253450..195417767hg38UCSC Ensembl
Innerchr1:195222580..195386897hg19UCSC Ensembl
Innerchr1:193489203..193653520hg18UCSC Ensembl
Innerchr1:191954237..192118554hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38164318
hg19164318
hg18164318
hg17164318
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467205
Supporting Variants
SamplesHGDP00737
Known Genes
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)nssv542550
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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