A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464726



Internal ID15524791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134703503..134718989hg38UCSC Ensembl
Innerchr7:134388255..134403741hg19UCSC Ensembl
Innerchr7:134038795..134054281hg18UCSC Ensembl
Innerchr7:133845510..133860996hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3815487
hg1915487
hg1815487
hg1715487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540585
SamplesHGDP00968
Known Genes
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)nsv464726
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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