A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534852



Internal ID15508013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31751698..31789827hg38UCSC Ensembl
Innerchr17:30078717..30116846hg19UCSC Ensembl
Innerchr17:27102830..27140959hg18UCSC Ensembl
Innerchr17:27102830..27140959hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3838130
hg1938130
hg1838130
hg1738130
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457721
Supporting Variants
SamplesHGDP00752
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)nssv534852
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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