A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005546



Internal ID18748077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39932264..40119942hg38UCSC Ensembl
Innerchr4:39933884..40121562hg19UCSC Ensembl
Innerchr4:39610279..39797957hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38187679
hg19187679
hg18187679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5194n100
Supporting Variantsnssv3739354
Samples
Known GenesLOC344967, N4BP2, PDS5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005546
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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