A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064558



Internal ID18807089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53773468..53957491hg38UCSC Ensembl
Innerchr19:54276722..54460745hg19UCSC Ensembl
Innerchr19:58968534..59152557hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38184024
hg19184024
hg18184024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573304
Samples
Known GenesCACNG7, MIR371A, MIR371B, MIR372, MIR373, MYADM, NLRP12, PRKCG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064558
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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