A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067247



Internal ID19156466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53444276..53510789hg38UCSC Ensembl
Innerchr19:53947529..54014043hg19UCSC Ensembl
Innerchr19:58639341..58705855hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3866514
hg1966515
hg1866515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3651n100
Supporting Variantsnssv3573294, nssv3726547
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)nsv1067247
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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