A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541384



Internal ID15165645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19576510..19598962hg38UCSC Ensembl
Innerchr8:19434021..19456473hg19UCSC Ensembl
Innerchr8:19478301..19500753hg18UCSC Ensembl
Innerchr8:19478301..19500753hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3822453
hg1922453
hg1822453
hg1722453
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465601
Supporting Variants
SamplesNINDS_230
Known GenesCSGALNACT1
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)nssv541384
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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