A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540526



Internal ID15161081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:90561197..90592034hg38UCSC Ensembl
Innerchr7:90190511..90221348hg19UCSC Ensembl
Innerchr7:90028447..90059284hg18UCSC Ensembl
Innerchr7:89835162..89865999hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3830838
hg1930838
hg1830838
hg1730838
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464638
Supporting Variants
SamplesHGDP00711
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)nssv540526
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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