A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457866



Internal ID15517931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62978029..63067719hg38UCSC Ensembl
Innerchr17:61055390..61145080hg19UCSC Ensembl
Innerchr17:58409122..58498812hg18UCSC Ensembl
Innerchr17:58409122..58498812hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3889691
hg1989691
hg1889691
hg1789691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534973
SamplesHGDP01330
Known GenesMIR548W, TANC2
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)nsv457866
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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