A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541407



Internal ID15513045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38897012..38940631hg38UCSC Ensembl
Innerchr8:38754530..38798149hg19UCSC Ensembl
Innerchr8:38873687..38917306hg18UCSC Ensembl
Innerchr8:38873687..38917306hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3843620
hg1943620
hg1843620
hg1743620
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465637
Supporting Variants
SamplesNINDS_98
Known GenesPLEKHA2
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)nssv541407
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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