A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467356



Internal ID15527421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69495991..69531984hg38UCSC Ensembl
Innerchr10:71255747..71291740hg19UCSC Ensembl
Innerchr10:70925753..70961746hg18UCSC Ensembl
Innerchr10:70925753..70961746hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3835994
hg1935994
hg1835994
hg1735994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542672
Samples1798860587_A
Known GenesTSPAN15
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)nsv467356
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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