A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460822



Internal ID15520887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113824234..113882123hg38UCSC Ensembl
Innerchr3:113543081..113600970hg19UCSC Ensembl
Innerchr3:115025771..115083660hg18UCSC Ensembl
Innerchr3:115025771..115083660hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3857890
hg1957890
hg1857890
hg1757890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537324
SamplesHGDP00622
Known GenesGRAMD1C
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)nsv460822
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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