A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542332



Internal ID15157188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43199601..43304140hg38UCSC Ensembl
Innerchr10:43695049..43799588hg19UCSC Ensembl
Innerchr10:43015055..43119594hg18UCSC Ensembl
Innerchr10:43015055..43119594hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38104540
hg19104540
hg18104540
hg17104540
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466881
Supporting Variants
Samples1780862444_A
Known GenesRASGEF1A
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)nssv542332
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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