A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065230



Internal ID19154449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53444276..53514004hg38UCSC Ensembl
Innerchr19:53947529..54017258hg19UCSC Ensembl
Innerchr19:58639341..58709070hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3869729
hg1969730
hg1869730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3651n100
Supporting Variantsnssv3573297, nssv3573298, nssv3573299
Samples
Known GenesTPM3P9, ZNF761, ZNF813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065230
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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