A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012600



Internal ID18755132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:59787334..61757762hg38UCSC Ensembl
Innerchr3:59773060..61743436hg19UCSC Ensembl
Innerchr3:59748100..61718476hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381970429
hg191970377
hg181970377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593397
Samples
Known GenesFHIT, PTPRG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012600
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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