A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534996



Internal ID15502470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:72268638..72296621hg38UCSC Ensembl
Innerchr17:70264779..70292762hg19UCSC Ensembl
Innerchr17:67776374..67804357hg18UCSC Ensembl
Innerchr17:67776374..67804357hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3827984
hg1927984
hg1827984
hg1727984
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457898
Supporting Variants
Samples1780854393_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)nssv534996
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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