A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457164



Internal ID15517229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57202862..57267189hg38UCSC Ensembl
Innerchr15:57495060..57559387hg19UCSC Ensembl
Innerchr15:55282352..55346679hg18UCSC Ensembl
Innerchr15:55282352..55346679hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3864328
hg1964328
hg1864328
hg1764328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534416
Samples1780854023_A
Known GenesTCF12
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)nsv457164
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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