A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580124



Internal ID16020847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54053137..54056151hg38UCSC Ensembl
Innerchr19:54556391..54559405hg19UCSC Ensembl
Innerchr19:59248203..59251217hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383015
hg193015
hg183015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6542n54
Supporting Variantsnssv901306, nssv901307
Samples
Known GenesVSTM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580124
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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