A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581731



Internal ID16022454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45531580..45532808hg38UCSC Ensembl
Innerchr2:45758719..45759947hg19UCSC Ensembl
Innerchr2:45612223..45613451hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6844n54
Supporting Variantsnssv908083, nssv908082, nssv908084, nssv908081, nssv908080
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581731
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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