A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041918



Internal ID18784449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123630488..123700308hg38UCSC Ensembl
Innerchr12:124115035..124184855hg19UCSC Ensembl
Innerchr12:122680988..122750808hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3869821
hg1969821
hg1869821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1566n100
Supporting Variantsnssv3526099
Samples
Known GenesEIF2B1, GTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041918
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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