A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457971



Internal ID15171350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81216762..81282974hg38UCSC Ensembl
Innerchr17:79190562..79256774hg19UCSC Ensembl
Innerchr17:76805157..76871369hg18UCSC Ensembl
Innerchr17:76805157..76871369hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3866213
hg1966213
hg1866213
hg1766213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535056
SamplesHGDP00814
Known GenesAZI1, C17orf89, ENTHD2, SLC38A10
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)nsv457971
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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