A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043738



Internal ID18786269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123642456..123685150hg38UCSC Ensembl
Innerchr12:124127003..124169697hg19UCSC Ensembl
Innerchr12:122692956..122735650hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3842695
hg1942695
hg1842695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1567n100
Supporting Variantsnssv3526115, nssv3526114
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)nsv1043738
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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