A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464414



Internal ID15177793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:28448634..28512759hg38UCSC Ensembl
Innerchr7:28488252..28552377hg19UCSC Ensembl
Innerchr7:28454777..28518902hg18UCSC Ensembl
Innerchr7:28261492..28325617hg17UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg3864126
hg1964126
hg1864126
hg1764126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540333
SamplesHGDP00444
Known GenesCREB5
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)nsv464414
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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