A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542224



Internal ID15507974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:16463718..16478785hg38UCSC Ensembl
Innerchr10:16505717..16520784hg19UCSC Ensembl
Innerchr10:16545723..16560790hg18UCSC Ensembl
Innerchr10:16545723..16560790hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3815068
hg1915068
hg1815068
hg1715068
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466757
Supporting Variants
SamplesHGDP00747
Known GenesPTER
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)nssv542224
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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