A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578246



Internal ID16018969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1137506..1138215hg38UCSC Ensembl
Innerchr19:1137505..1138214hg19UCSC Ensembl
Innerchr19:1088505..1089214hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38710
hg19710
hg18710
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6189n54
Supporting Variantsnssv891731, nssv891728, nssv891730, nssv891726, nssv891729, nssv891727
Samples
Known GenesSBNO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578246
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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