A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457285



Internal ID15170664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45472931..45525075hg38UCSC Ensembl
Innerchr2:45700070..45752214hg19UCSC Ensembl
Innerchr2:45553574..45605718hg18UCSC Ensembl
Innerchr2:45611721..45663865hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3852145
hg1952145
hg1852145
hg1752145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534511
SamplesNINDS_145
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)nsv457285
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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