A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581740



Internal ID16022463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45598957..45627725hg38UCSC Ensembl
Innerchr2:45826096..45854864hg19UCSC Ensembl
Innerchr2:45679600..45708368hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3828769
hg1928769
hg1828769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908097
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581740
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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