A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581733



Internal ID16022456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45531727..45532735hg38UCSC Ensembl
Innerchr2:45758866..45759874hg19UCSC Ensembl
Innerchr2:45612370..45613378hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381009
hg191009
hg181009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6846n54
Supporting Variantsnssv908087, nssv908086
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581733
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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