A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4018791



Internal ID22080422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80265186..80955858hg38UCSC Ensembl
Outerchr5:80260241..80961090hg38UCSC Ensembl
Innerchr5:79561005..80251677hg19UCSC Ensembl
Outerchr5:79556060..80256909hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38700850
hg19700850
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156354
Supporting Variants
Samples
Known GenesANKRD34B, CRSP8P, DHFR, FAM151B, LOC102524628, LOC644936, MSH3, MTRNR2L2, RASGRF2, SPZ1, ZFYVE16
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4018791
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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