A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461337



Internal ID15521402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38966387..39011010hg38UCSC Ensembl
Innerchr4:38968008..39012630hg19UCSC Ensembl
Innerchr4:38644403..38689025hg18UCSC Ensembl
Innerchr4:38790574..38835196hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3844624
hg1944623
hg1844623
hg1744623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537736
Samples1798860192_A
Known GenesTMEM156
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)nsv461337
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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