A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465743



Internal ID15525808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95460195..95505976hg38UCSC Ensembl
Innerchr8:96472423..96518204hg19UCSC Ensembl
Innerchr8:96541599..96587380hg18UCSC Ensembl
Innerchr8:96541599..96587380hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3845782
hg1945782
hg1845782
hg1745782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541491
Samples1782681195_A
Known GenesLOC100616530
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)nsv465743
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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