A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581716



Internal ID16022439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45472931..45525075hg38UCSC Ensembl
Innerchr2:45700070..45752214hg19UCSC Ensembl
Innerchr2:45553574..45605718hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3852145
hg1952145
hg1852145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150436
SamplesNINDS_145
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581716
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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