A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051116



Internal ID19140335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56937586..56986581hg38UCSC Ensembl
Innerchr12:57331370..57380365hg19UCSC Ensembl
Innerchr12:55617637..55666632hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3848996
hg1948996
hg1848996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523604
Samples
Known GenesRDH16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051116
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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