A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543063



Internal ID15507200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199064633..199117967hg38UCSC Ensembl
Innerchr1:199033762..199087095hg19UCSC Ensembl
Innerchr1:197300385..197353718hg18UCSC Ensembl
Innerchr1:195765419..195818752hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3853335
hg1953334
hg1853334
hg1753334
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467927
Supporting Variants
SamplesHGDP00623
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)nssv543063
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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