A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540302



Internal ID15161936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12473176..12524502hg38UCSC Ensembl
Innerchr7:12512802..12564128hg19UCSC Ensembl
Innerchr7:12479327..12530653hg18UCSC Ensembl
Innerchr7:12286042..12337368hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3851327
hg1951327
hg1851327
hg1751327
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464377
Supporting Variants
SamplesHGDP00875
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)nssv540302
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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