A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462563



Internal ID15175942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177357511..177469411hg38UCSC Ensembl
Innerchr5:176784512..176896412hg19UCSC Ensembl
Innerchr5:176717118..176829018hg18UCSC Ensembl
Innerchr5:176717118..176829018hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38111901
hg19111901
hg18111901
hg17111901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv733n27
Supporting Variantsnssv538697
Samples1780862021_A
Known GenesDBN1, F12, GRK6, PFN3, PRR7, PRR7-AS1, RGS14, SLC34A1
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)nsv462563
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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