A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542484



Internal ID15504936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194434443..194476336hg38UCSC Ensembl
Innerchr1:194403573..194445466hg19UCSC Ensembl
Innerchr1:192670196..192712089hg18UCSC Ensembl
Innerchr1:191135230..191177123hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3841894
hg1941894
hg1841894
hg1741894
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467049
Supporting Variants
SamplesHGDP00005
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)nssv542484
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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