A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540529



Internal ID15505134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93534407..93593493hg38UCSC Ensembl
Innerchr7:93163719..93222805hg19UCSC Ensembl
Innerchr7:93001655..93060741hg18UCSC Ensembl
Innerchr7:92808370..92867456hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3859087
hg1959087
hg1859087
hg1759087
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464641
Supporting Variants
SamplesHGDP00056
Known GenesCALCR
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)nssv540529
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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