A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534954



Internal ID15509240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53614723..53697558hg38UCSC Ensembl
Innerchr17:51692084..51774919hg19UCSC Ensembl
Innerchr17:49047083..49129918hg18UCSC Ensembl
Innerchr17:49047083..49129918hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3882836
hg1982836
hg1882836
hg1782836
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457844
Supporting Variants
SamplesHGDP00963
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)nssv534954
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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