A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540591



Internal ID15155303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139792168..139839419hg38UCSC Ensembl
Innerchr7:139491967..139539218hg19UCSC Ensembl
Innerchr7:139138436..139185687hg18UCSC Ensembl
Innerchr7:138945151..138992402hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3847252
hg1947252
hg1847252
hg1747252
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464733
Supporting Variants
Samples1780854063_A
Known GenesTBXAS1
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)nssv540591
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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