A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000292



Internal ID18742823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:13278..62222hg38UCSC Ensembl
Innerchr4:13278..62114hg19UCSC Ensembl
Innerchr4:3278..52114hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3848945
hg1948837
hg1848837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5056n100
Supporting Variantsnssv3738052
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000292
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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