A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578748



Internal ID16366157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18280260..18281941hg38UCSC Ensembl
Innerchr19:18391070..18392751hg19UCSC Ensembl
Innerchr19:18252070..18253751hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381682
hg191682
hg181682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6294n54
Supporting Variantsnssv895752, nssv895750, nssv895755, nssv895751, nssv895749, nssv895754, nssv895753
Samples
Known GenesJUND
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578748
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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