A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595129



Internal ID16035852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109000908..109672304hg38UCSC Ensembl
Innerchr4:109922064..110593460hg19UCSC Ensembl
Innerchr4:110141513..110812909hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38671397
hg19671397
hg18671397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153163, nssv1153162
SamplesHGDP01042, HGDP01041
Known GenesCCDC109B, COL25A1, SEC24B, SEC24B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595129
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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