A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536727



Internal ID15510258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228438026..228480036hg38UCSC Ensembl
Innerchr2:229302742..229344752hg19UCSC Ensembl
Innerchr2:229010986..229052996hg18UCSC Ensembl
Innerchr2:229128247..229170257hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3842011
hg1942011
hg1842011
hg1742011
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460111
Supporting Variants
SamplesHGDP01215
Known Genes
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)nssv536727
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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