A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046534



Internal ID18789065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44700826..44862350hg38UCSC Ensembl
Innerchr10:45196274..45357798hg19UCSC Ensembl
Innerchr10:44516280..44677804hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38161525
hg19161525
hg18161525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv729n100
Supporting Variantsnssv3517405, nssv3507010, nssv3517851, nssv3519283
Samples
Known GenesTMEM72-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046534
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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