A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543917



Internal ID15502068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100842496..100862389hg38UCSC Ensembl
Innerchr11:100713227..100733120hg19UCSC Ensembl
Innerchr11:100218437..100238330hg18UCSC Ensembl
Innerchr11:100218437..100238330hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3819894
hg1919894
hg1819894
hg1719894
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468849
Supporting Variants
Samples1780854117_A
Known GenesARHGAP42
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)nssv543917
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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