A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456734



Internal ID15516799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27072453..27126924hg38UCSC Ensembl
Innerchr15:27317600..27372071hg19UCSC Ensembl
Innerchr15:24900346..24954817hg18UCSC Ensembl
Innerchr15:24900346..24954817hg17UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg3854472
hg1954472
hg1854472
hg1754472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534026
Samples1780862101_A
Known GenesGABRG3
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)nsv456734
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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