A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058969



Internal ID18801500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53753679..53795760hg38UCSC Ensembl
Innerchr19:54256933..54299014hg19UCSC Ensembl
Innerchr19:58948745..58990826hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3842082
hg1942082
hg1842082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573303
Samples
Known GenesMIR1283-2, MIR371A, MIR371B, MIR372, MIR373, MIR516A1, MIR516A2, MIR519A2, MIR527, NLRP12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058969
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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