A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010746



Internal ID18753278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:125383402..127637681hg38UCSC Ensembl
Innerchr4:126304557..128558836hg19UCSC Ensembl
Innerchr4:126524007..128778286hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg382254280
hg192254280
hg182254280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639412
Samples
Known GenesFAT4, INTU, MIR2054
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010746
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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