A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457147



Internal ID15517212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:53788613..53864783hg38UCSC Ensembl
Innerchr15:54080810..54156980hg19UCSC Ensembl
Innerchr15:51868102..51944272hg18UCSC Ensembl
Innerchr15:51868102..51944272hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3876171
hg1976171
hg1876171
hg1776171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534405
Samples1780854382_A
Known Genes
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)nsv457147
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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