A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457161



Internal ID15517226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55982245..56032253hg38UCSC Ensembl
Innerchr15:56274443..56324451hg19UCSC Ensembl
Innerchr15:54061735..54111743hg18UCSC Ensembl
Innerchr15:54061735..54111743hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3850009
hg1950009
hg1850009
hg1750009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv319n27
Supporting Variantsnssv534413
Samples1780862416_A
Known GenesNEDD4
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)nsv457161
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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