A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544251



Internal ID15505866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4801226..4845976hg38UCSC Ensembl
Innerchr2:4848816..4893566hg19UCSC Ensembl
Innerchr2:4826691..4871441hg18UCSC Ensembl
Innerchr2:4342185..4386935hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3844751
hg1944751
hg1844751
hg1744751
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469360
Supporting Variants
SamplesHGDP00251
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)nssv544251
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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