A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3514617



Internal ID18812898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30267250..30286396hg38UCSC Ensembl
Innerchr12:30420183..30439329hg19UCSC Ensembl
Innerchr12:30311450..30330596hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3819147
hg1919147
hg1819147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042966
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3514617
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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