A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457912



Internal ID15171291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76838238..76880546hg38UCSC Ensembl
Innerchr17:74834320..74876628hg19UCSC Ensembl
Innerchr17:72345915..72388223hg18UCSC Ensembl
Innerchr17:72345915..72388223hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3842309
hg1942309
hg1842309
hg1742309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535006
SamplesHGDP00846
Known GenesMGAT5B
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)nsv457912
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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