A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457290



Internal ID15517355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101300541..101324391hg38UCSC Ensembl
Innerchr15:101840746..101864596hg19UCSC Ensembl
Innerchr15:99658269..99682119hg18UCSC Ensembl
Innerchr15:99658269..99682119hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3823851
hg1923851
hg1823851
hg1723851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534515
Samples1780854437_A
Known GenesLOC100507472, PCSK6
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)nsv457290
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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