A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537359



Internal ID15502944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:141308772..141356120hg38UCSC Ensembl
Innerchr3:141027614..141074962hg19UCSC Ensembl
Innerchr3:142510304..142557652hg18UCSC Ensembl
Innerchr3:142510312..142557660hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3847349
hg1947349
hg1847349
hg1747349
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460871
Supporting Variants
Samples1780862007_A
Known GenesZBTB38
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)nssv537359
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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