A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542040



Internal ID15508242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113612710..113635117hg38UCSC Ensembl
Innerchr9:116374990..116397397hg19UCSC Ensembl
Innerchr9:115414811..115437218hg18UCSC Ensembl
Innerchr9:113454544..113476951hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3822408
hg1922408
hg1822408
hg1722408
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466511
Supporting Variants
SamplesHGDP00787
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)nssv542040
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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