A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537991



Internal ID15505919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55589517..55657837hg38UCSC Ensembl
Innerchr1:56055190..56123510hg19UCSC Ensembl
Innerchr1:55827778..55896098hg18UCSC Ensembl
Innerchr1:55767211..55835531hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3868321
hg1968321
hg1868321
hg1768321
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461617
Supporting Variants
SamplesHGDP00279
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)nssv537991
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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