A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457845



Internal ID15517910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53831791..53899101hg38UCSC Ensembl
Innerchr17:51909152..51976462hg19UCSC Ensembl
Innerchr17:49264151..49331461hg18UCSC Ensembl
Innerchr17:49264151..49331461hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3867311
hg1967311
hg1867311
hg1767311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534955
SamplesHGDP00828
Known GenesMIR548AJ2
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)nsv457845
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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