A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003954



Internal ID19093171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120963044..121005977hg38UCSC Ensembl
Innerchr2:121720620..121763553hg19UCSC Ensembl
Innerchr2:121437090..121480023hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3842934
hg1942934
hg1842934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580696
Samples
Known GenesGLI2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003954
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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