A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003127



Internal ID18745659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:17454748..17540540hg38UCSC Ensembl
Innerchr4:17456371..17542163hg19UCSC Ensembl
Innerchr4:17065469..17151261hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3885793
hg1985793
hg1885793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3619867
Samples
Known GenesCLRN2, QDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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