A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578511



Internal ID16019234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7638725..7657750hg38UCSC Ensembl
Innerchr19:7703611..7722636hg19UCSC Ensembl
Innerchr19:7609611..7628636hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3819026
hg1919026
hg1819026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv893248
Samples
Known GenesSTXBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578511
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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