A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465240



Internal ID15525305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:154880936..154901904hg38UCSC Ensembl
Innerchr7:154672646..154693614hg19UCSC Ensembl
Innerchr7:154303579..154324547hg18UCSC Ensembl
Innerchr7:154110294..154131262hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3820969
hg1920969
hg1820969
hg1720969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv848n27
Supporting Variantsnssv541077
SamplesHGDP01163
Known GenesDPP6
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)nsv465240
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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