A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533734



Internal ID15158833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39931223..39981525hg38UCSC Ensembl
Innerchr2:40158363..40208665hg19UCSC Ensembl
Innerchr2:40011867..40062169hg18UCSC Ensembl
Innerchr2:40070014..40120316hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3850303
hg1950303
hg1850303
hg1750303
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456407
Supporting Variants
SamplesHGDP00146
Known GenesSLC8A1-AS1
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)nssv533734
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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