A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540543



Internal ID15507916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102845807..102983745hg38UCSC Ensembl
Innerchr7:102486254..102624192hg19UCSC Ensembl
Innerchr7:102273490..102411428hg18UCSC Ensembl
Innerchr7:102080205..102218143hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38137939
hg19137939
hg18137939
hg17137939
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464667
Supporting Variants
SamplesHGDP00736
Known GenesFBXL13, LRRC17
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)nssv540543
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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