A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457895



Internal ID15517960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:71330442..71374954hg38UCSC Ensembl
Innerchr17:69326583..69371095hg19UCSC Ensembl
Innerchr17:66838178..66882690hg18UCSC Ensembl
Innerchr17:66838178..66882690hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3844513
hg1944513
hg1844513
hg1744513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534993
Samples1798860114_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)nsv457895
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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