A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464724



Internal ID15524789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:132180333..132194503hg38UCSC Ensembl
Innerchr7:131865092..131879262hg19UCSC Ensembl
Innerchr7:131515632..131529802hg18UCSC Ensembl
Innerchr7:131322347..131336517hg17UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3814171
hg1914171
hg1814171
hg1714171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540583
Samples1798860306_A
Known GenesPLXNA4
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)nsv464724
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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