A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457669



Internal ID15517734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:11281840..11306634hg38UCSC Ensembl
Innerchr17:11185157..11209951hg19UCSC Ensembl
Innerchr17:11125882..11150676hg18UCSC Ensembl
Innerchr17:11125882..11150676hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3824795
hg1924795
hg1824795
hg1724795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534804
SamplesNINDS_160
Known GenesSHISA6
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)nsv457669
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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