A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534942



Internal ID15159391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47341773..47469712hg38UCSC Ensembl
Innerchr17:45419139..45547078hg19UCSC Ensembl
Innerchr17:42774138..42902077hg18UCSC Ensembl
Innerchr17:42774138..42902077hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38127940
hg19127940
hg18127940
hg17127940
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457821
Supporting Variants
SamplesHGDP00356
Known GenesEFCAB13, MRPL45P2
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)nssv534942
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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