A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534811



Internal ID15504540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14635885..14672272hg38UCSC Ensembl
Innerchr17:14539202..14575589hg19UCSC Ensembl
Innerchr17:14479927..14516314hg18UCSC Ensembl
Innerchr17:14479927..14516314hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3836388
hg1936388
hg1836388
hg1736388
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457677
Supporting Variants
Samples1782681294_A
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)nssv534811
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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