A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535007



Internal ID15508860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77221926..77254393hg38UCSC Ensembl
Innerchr17:75218008..75250475hg19UCSC Ensembl
Innerchr17:72729603..72762070hg18UCSC Ensembl
Innerchr17:72729603..72762070hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3832468
hg1932468
hg1832468
hg1732468
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457913
Supporting Variants
SamplesHGDP00909
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)nssv535007
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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