A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712599



Internal ID19010880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108476736..108512934hg38UCSC Ensembl
Innerchr12:108870513..108906711hg19UCSC Ensembl
Innerchr12:107394643..107430841hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3836199
hg1936199
hg1836199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1054557
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)nssv3712599
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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