A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542041



Internal ID15502466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113681989..113709956hg38UCSC Ensembl
Innerchr9:116444269..116472236hg19UCSC Ensembl
Innerchr9:115484090..115512057hg18UCSC Ensembl
Innerchr9:113523823..113551790hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3827968
hg1927968
hg1827968
hg1727968
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466513
Supporting Variants
Samples1780854392_A
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)nssv542041
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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