A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534957



Internal ID15502588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54350547..54467160hg38UCSC Ensembl
Innerchr17:52427908..52544521hg19UCSC Ensembl
Innerchr17:49782907..49899520hg18UCSC Ensembl
Innerchr17:49782907..49899520hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38116614
hg19116614
hg18116614
hg17116614
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457848
Supporting Variants
Samples1780854462_A
Known GenesMIR548AJ2
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)nssv534957
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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