A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055052



Internal ID18797583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123642456..123691573hg38UCSC Ensembl
Innerchr12:124127003..124176120hg19UCSC Ensembl
Innerchr12:122692956..122742073hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3849118
hg1949118
hg1849118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1567n100
Supporting Variantsnssv3526120, nssv3526119
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)nsv1055052
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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