A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538732



Internal ID15508348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8998487..9020907hg38UCSC Ensembl
Innerchr1:9058546..9080966hg19UCSC Ensembl
Innerchr1:8981133..9003553hg18UCSC Ensembl
Innerchr1:8992812..9015232hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3822421
hg1922421
hg1822421
hg1722421
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462616
Supporting Variants
SamplesHGDP00806
Known GenesSLC2A7
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)nssv538732
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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