A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540592



Internal ID15156428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140495663..140533785hg38UCSC Ensembl
Innerchr7:140195463..140233585hg19UCSC Ensembl
Innerchr7:139841932..139880054hg18UCSC Ensembl
Innerchr7:139648647..139686769hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3838123
hg1938123
hg1838123
hg1738123
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464735
Supporting Variants
Samples1780862084_A
Known GenesDENND2A
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)nssv540592
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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