A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000579



Internal ID19089796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111270033..111371886hg38UCSC Ensembl
Innerchr2:112027610..112129463hg19UCSC Ensembl
Innerchr2:111744081..111845934hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38101854
hg19101854
hg18101854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4049n100
Supporting Variantsnssv3580220
Samples
Known GenesMIR4435-1, MIR4435-1HG, MIR4435-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000579
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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