A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542311



Internal ID15162835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:28273718..28282931hg38UCSC Ensembl
Innerchr10:28562647..28571860hg19UCSC Ensembl
Innerchr10:28602653..28611866hg18UCSC Ensembl
Innerchr10:28602653..28611866hg17UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg389214
hg199214
hg189214
hg179214
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466856
Supporting Variants
SamplesHGDP01028
Known GenesMPP7
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)nssv542311
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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