A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542110



Internal ID15164928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131269410..131347804hg38UCSC Ensembl
Innerchr9:134144797..134223191hg19UCSC Ensembl
Innerchr9:133134618..133213012hg18UCSC Ensembl
Innerchr9:131174351..131252745hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3878395
hg1978395
hg1878395
hg1778395
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466602
Supporting Variants
SamplesNINDS_119
Known GenesFAM78A, PPAPDC3
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)nssv542110
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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