A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010219



Internal ID18752750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112137862..112204800hg38UCSC Ensembl
Innerchr3:111856709..111923647hg19UCSC Ensembl
Innerchr3:113339399..113406337hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3866939
hg1966939
hg1866939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3735253
Samples
Known GenesSLC9C1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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