A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461191



Internal ID15521256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7100870..7127274hg38UCSC Ensembl
Innerchr4:7102597..7129001hg19UCSC Ensembl
Innerchr4:7153498..7179902hg18UCSC Ensembl
Innerchr4:7220669..7247073hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3826405
hg1926405
hg1826405
hg1726405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537616
SamplesHGDP00857
Known GenesFLJ36777
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)nsv461191
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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