A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457296



Internal ID15170675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45547409..45609642hg38UCSC Ensembl
Innerchr2:45774548..45836781hg19UCSC Ensembl
Innerchr2:45628052..45690285hg18UCSC Ensembl
Innerchr2:45686199..45748432hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3862234
hg1962234
hg1862234
hg1762234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534518
SamplesNINDS_133
Known GenesSRBD1
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)nsv457296
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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