A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712730



Internal ID16006686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43864376..43872293hg38UCSC Ensembl
Innerchr1:44330048..44337965hg19UCSC Ensembl
Innerchr1:44102635..44110552hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg387918
hg197918
hg187918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546129
Supporting Variants
Samples
Known GenesST3GAL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712730
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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