A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542463



Internal ID15502637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194282691..194339072hg38UCSC Ensembl
Innerchr1:194251821..194308202hg19UCSC Ensembl
Innerchr1:192518444..192574825hg18UCSC Ensembl
Innerchr1:190983478..191039859hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856382
hg1956382
hg1856382
hg1756382
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467027
Supporting Variants
Samples1780854477_A
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)nssv542463
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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