A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048868



Internal ID19138087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18073754..18164118hg38UCSC Ensembl
Innerchr12:18226688..18317052hg19UCSC Ensembl
Innerchr12:18117955..18208319hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3890365
hg1990365
hg1890365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1396n100
Supporting Variantsnssv3517868, nssv3710287, nssv3518993, nssv3510047, nssv3710288
Samples
Known GenesRERGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048868
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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