A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053101



Internal ID18795632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123634608..123688184hg38UCSC Ensembl
Innerchr12:124119155..124172731hg19UCSC Ensembl
Innerchr12:122685108..122738684hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853577
hg1953577
hg1853577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1567n100
Supporting Variantsnssv3526101
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053101
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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