A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578223



Internal ID16018946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1136224..1138215hg38UCSC Ensembl
Innerchr19:1136223..1138214hg19UCSC Ensembl
Innerchr19:1087223..1089214hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381992
hg191992
hg181992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891599, nssv891602, nssv891603, nssv891604, nssv891597, nssv891598, nssv891600, nssv891601
Samples
Known GenesSBNO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578223
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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