A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581190



Internal ID16368599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24490840..24492157hg38UCSC Ensembl
Innerchr2:24713709..24715026hg19UCSC Ensembl
Innerchr2:24567213..24568530hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381318
hg191318
hg181318
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6735n54
Supporting Variantsnssv904489, nssv904481, nssv904487, nssv904483, nssv904490, nssv904485, nssv904484, nssv904486, nssv904488, nssv904482
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581190
Frequency
Sample Size17421
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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