A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042122



Internal ID18784653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49284746..49429385hg38UCSC Ensembl
Innerchr12:49678529..49823168hg19UCSC Ensembl
Innerchr12:47964796..48109435hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38144640
hg19144640
hg18144640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1497n100
Supporting Variantsnssv3523528
Samples
Known GenesC1QL4, DNAJC22, LOC100335030, PRPH, SPATS2, TROAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042122
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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