A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542163



Internal ID15503333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136752622..136799540hg38UCSC Ensembl
Innerchr9:139647074..139693992hg19UCSC Ensembl
Innerchr9:138766895..138813813hg18UCSC Ensembl
Innerchr9:136922911..136969829hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3846919
hg1946919
hg1846919
hg1746919
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466681
Supporting Variants
Samples1780862197_A
Known GenesCCDC183, LCN15, LCN8, TMEM141
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)nssv542163
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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