A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537947



Internal ID15155256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54518434..54604313hg38UCSC Ensembl
Innerchr1:54984107..55069986hg19UCSC Ensembl
Innerchr1:54756695..54842574hg18UCSC Ensembl
Innerchr1:54696128..54782007hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3885880
hg1985880
hg1885880
hg1785880
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461572
Supporting Variants
Samples1780854017_A
Known GenesACOT11
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)nssv537947
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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