A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3516162



Internal ID18814443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9481262..9583090hg38UCSC Ensembl
Innerchr12:9633858..9735686hg19UCSC Ensembl
Innerchr12:9525125..9626953hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38101829
hg19101829
hg18101829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053975
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)nssv3516162
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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