A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541625



Internal ID15512049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141226238..141246617hg38UCSC Ensembl
Innerchr8:142236337..142256716hg19UCSC Ensembl
Innerchr8:142305519..142325898hg18UCSC Ensembl
Innerchr8:142305519..142325898hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3820380
hg1920380
hg1820380
hg1720380
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465955
Supporting Variants
SamplesNINDS_194
Known GenesSLC45A4
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)nssv541625
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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