A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457914



Internal ID15171293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77313269..77348945hg38UCSC Ensembl
Innerchr17:75309351..75345027hg19UCSC Ensembl
Innerchr17:72820946..72856622hg18UCSC Ensembl
Innerchr17:72820946..72856622hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3835677
hg1935677
hg1835677
hg1735677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535008
Samples1782681080_A
Known GenesSEPT9
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)nsv457914
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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