A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540333



Internal ID15159538
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464414
Supporting Variants
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)nssv540333
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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