A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457680



Internal ID15517745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15124688..15154919hg38UCSC Ensembl
Innerchr17:15028005..15058236hg19UCSC Ensembl
Innerchr17:14968730..14998961hg18UCSC Ensembl
Innerchr17:14968730..14998961hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3830232
hg1930232
hg1830232
hg1730232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n27
Supporting Variantsnssv534814
SamplesHGDP00812
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)nsv457680
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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