A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467193



Internal ID15180572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50505505..50529904hg38UCSC Ensembl
Innerchr10:52265265..52289664hg19UCSC Ensembl
Innerchr10:51935271..51959670hg18UCSC Ensembl
Innerchr10:51935271..51959670hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3824400
hg1924400
hg1824400
hg1724400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542542
SamplesHGDP00262
Known GenesSGMS1
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)nsv467193
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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