A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008781



Internal ID18751312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2962353..3017315hg38UCSC Ensembl
Innerchr4:2964080..3019042hg19UCSC Ensembl
Innerchr4:2933878..2988840hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3854963
hg1954963
hg1854963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5082n100
Supporting Variantsnssv3616112, nssv3616111
Samples
Known GenesGRK4, NOP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008781
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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