A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539195



Internal ID15504156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9352349hg38UCSC Ensembl
Innerchr1:9318401..9412408hg19UCSC Ensembl
Innerchr1:9240988..9334995hg18UCSC Ensembl
Innerchr1:9252667..9346674hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3894008
hg1994008
hg1894008
hg1794008
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463172
Supporting Variants
Samples1780862577_A
Known GenesH6PD, SPSB1
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)nssv539195
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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