A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540512



Internal ID15155755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87203287..87911933hg38UCSC Ensembl
Innerchr7:86832603..87541248hg19UCSC Ensembl
Innerchr7:86670539..87379184hg18UCSC Ensembl
Innerchr7:86477254..87185899hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38708647
hg19708646
hg18708646
hg17708646
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464622
Supporting Variants
Samples1780854357_A
Known GenesABCB1, ABCB4, CROT, DBF4, RUNDC3B, SLC25A40, TMEM243, TP53TG1
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)nssv540512
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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