A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541547



Internal ID15509425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132279250..132307551hg38UCSC Ensembl
Innerchr8:133291497..133319798hg19UCSC Ensembl
Innerchr8:133360679..133388980hg18UCSC Ensembl
Innerchr8:133360679..133388980hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3828302
hg1928302
hg1828302
hg1728302
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465817
Supporting Variants
SamplesHGDP01003
Known GenesKCNQ3
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)nssv541547
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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