A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533718



Internal ID15159505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39924742..39968408hg38UCSC Ensembl
Innerchr2:40151882..40195548hg19UCSC Ensembl
Innerchr2:40005386..40049052hg18UCSC Ensembl
Innerchr2:40063533..40107199hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3843667
hg1943667
hg1843667
hg1743667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456385
Supporting Variants
SamplesHGDP00428
Known GenesSLC8A1-AS1
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)nssv533718
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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