A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052065



Internal ID18794596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123642456..123673392hg38UCSC Ensembl
Innerchr12:124127003..124157939hg19UCSC Ensembl
Innerchr12:122692956..122723892hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3830937
hg1930937
hg1830937
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526105, nssv3526108, nssv3526110, nssv3526109, nssv3712613, nssv3526107, nssv3526104, nssv3526106, nssv3712614
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)nsv1052065
Frequency
Sample Size29084
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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