A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457864



Internal ID15517929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61534680..61569403hg38UCSC Ensembl
Innerchr17:59612041..59646764hg19UCSC Ensembl
Innerchr17:56966823..57001546hg18UCSC Ensembl
Innerchr17:56966823..57001546hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3834724
hg1934724
hg1834724
hg1734724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534971
SamplesHGDP00580
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)nsv457864
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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